IVMS Genetics Flash Facts

Genetics Flash Facts
Q0001:What does it mean for genetic code to be commaless?
Read from a fixed starting point as a continuous sequence of bases
Q0002:What does it mean for genetic code to be nonoverlapping?
Read from a fixed starting point
Q0003:What does it mean for genetic code to be universal?
Genetic code is conserved throughout evolution
Q0004:What are the properties of the genetic code?
1. Unambiguous;2. Degenerate/redundant;3. Commaless/nonoverlapping;4. Universal
Q0005:When is genetic code not commaless/nonoverlapping?
In some viruses
10
Q0006:What are exceptions to universality of genetic code?
11
1. Mitochondria;2. Archaebacteria;3. Mycoplasma;4. Some yeasts
12
Q0007:Name that mutation: Same amino acid; often with a base change in 3rd position of codon
13
Silent mutation
14
Q0008:What kind of mutation is called: silent
15
Same amino acid; often with a base change in 3rd position of codon
16
Q0009:What mutation is masked by tRNA wobble?
17
Silent mutations
18
Q0010:Name that mutation: Changed amino acid whose structure is dissimilar to proper amino acid
19
Missense mutation (not conservative)
20
Q0011:Name that mutation: Changed amino acid whose structure is similar to proper amino acid
21
Conservative missense mutation
22
Q0012:What kind of mutation is called: missense
23
Amino acid is changed. If the structure of the new amino acid is similar to the original; it is called conservative.
24
Q0013:Name that mutation: Change resulting in early stop codon
25
Nonsense mutation;(Mnemonic: Stop the nonsense!)
26
Q0014:What kind of mutation is called: nonsense
27
Change resulting in early stop codon;(Mnemonic: Stop the nonsense!)
28
Q0015:Name that mutation: change resulting in misreading of all nucleotides downstream; usually resulting in a truncated protein
29
Frame shift mutation
30
Q0016:What kind of mutation is called: frameshift
31
change resulting in misreading of all nucleotides downstream; usually resulting in a truncated protein
32
Q0017:Mutations ordered by decreasing severity of damage
33
1. Nonsense;2. Missense;3. Silent
34
Q0018:Eukaryotic genome: single/multiple origins of replication
35
multiple
36
Q0019:Prokaryotic genome: single/multiple origins of replication
37
single
38
Q0020:Eukaryotic genome: Trigger for replication
39
Consensus sequence of AT-rich base pairs
40
Q0021:Prokaryotic genome: Describe DNA replication
41
Continuous bidirectional DNA synthesis on leading strand and discontinuous (Okazaki fragments) on lagging strand
42
Q0022:Enzyme function: DNA topoisomerases
43
Create a nick in the helix to relieve supercoils
44
Q0023:DNA Topoisomerase I: Mechanism
45
cuts one strand; passes the other through it then reanneals the cut strand
46
Q0024:DNA Topoisomerase II: Mechanism
47
cuts both strands; and passes an unbroken double strand through it then reanneals the cut strand
48
Q0025:Enzyme function: Primase
49
Makes an RNA primer on which DNA polymerase III can initiate replication
50
Q0026:DNA polymerase III: Mechanism
51
1. Adds deoxynucleotides to the 3' end until it reaches primer of preceding fragment;2. 3' to 5' exonuclease activity "proofreads" each added nucleotide
52
Q0027:DNA polymerase III: Which direction does it read?
53
3' to 5'
54
Q0028:DNA polymerase III: Which direction does it write?
55
5' to 3'
56
Q0029:DNA polymerase III: Which direction does it proofread?
57
3' to 5'
58
Q0030:Enzyme function: DNA polymerase III
59
Elongates the chain
60
Q0031:Enzyme function: DNA polymerase I
61
Degrades RNA primer and fills in the gap with DNA
62
Q0032:DNA polymerase I: Which direction does it read?
63
3' to 5'
64
Q0033:DNA polymerase I: Which direction does it write?
65
5' to 3'
66
Q0034:DNA polymerase I: Which direction does it proofread?
67
5' to 3'
68
Q0035:Enzyme function: DNA helicase
69
Separates the two strands of DNA into single strands allowing for replication to occur. The position of these separated strands is called the replication fork.
70
Q0036:Types of DNA repair
71
Single stranded;1. Nucleotide excision repair;2. Base excision repair;3. Mismatch repair;Double stranded;1. Nonhomologous end joining
72
Q0037:Nucleotide excision repair: Mechanism
73
1. Specific endonucleases release the oligonucleotide containing damaged bases;2. DNA polymerase and ligase fill and reseal the gap; respectively
74
Q0038:In what condition is nucleotide excision repair mutated?
75
Xeroderma pigmentosa (dry skin with melanoma and other cancers)
76
Q0039:Base excision repair: Mechanism
77
1. Specific glycosylases recognize and remove damaged bases;2. AP endonuclease cuts DNA at apyrimidinic site;3. Empty sugar is removed;4. Gap is refilled and resealed
78
Q0040:Mismatch repair: Mechanism
79
1. Unmethylated; newly synthesized string is recognized;2. Mismatched nucleotides are removed;3. Gap is refilled and resealed
80
Q0041:In what condition is mismatch excision repair mutated?
81
Hereditary Nonpolyposis Colon Cancer
82
Q0042:Nonhomologous end joining: Mechanism
83
Brings together two ends of DNA fragments (no requirement for homology)
84
Q0043:What is on the 5' end of a nucleotide
85
Triphosphate
86
Q0044:What is on the 3' end of a nucleotide
87
Hydroxyl group
88
Q0045:True/False: DNA is synthesized 5' to 3'
89
True
90
Q0046:True/False: DNA is synthesized 3' to 5'
91
False
92
Q0047:True/False: RNA is synthesized 5' to 3'
93
True
94
Q0048:True/False: RNA is synthesized 3' to 5'
95
False
96
Q0049:True/False: Protein synthesis proceeds 5' to 3'
97
True
98
Q0050:True/False: Protein synthesis proceeds 3' to 5'
99
False
100
Q0051:Types of RNA and their important qualities
101
Massive; Rampant; Tiny;mRNA is the largest type;rRNA is the most abundant type;tRNA is the smallest type
102
Q0052:What does eukaryotic RNA polymerase I make?
103
rRNA
104
Q0053:What does eukaryotic RNA polymerase II make?
105
mRNA
106
Q0054:What does eukaryotic RNA polymerase III make?
107
tRNA
108
Q0055:Which RNA polymerase makes rRNA?
109
eukaryotic RNA polymerase I and prokaryotic RNA polymerase
110
Q0056:Which RNA polymerase makes mRNA?
111
eukaryotic RNA polymerase II and prokaryotic RNA polymerase
112
Q0057:Which RNA polymerase makes tRNA?
113
eukaryotic RNA polymerase III and prokaryotic RNA polymerase
114
Q0058:True/False: RNA polymerase proofreads.
115
False
116
Q0059:True/False: RNA polymerase does not proofread.
117
True
118
Q0060:Special points about RNA polymerase II
119
1. Opens DNA at promoter site;2. Inhibited by alphaamanitin
120
Q0061:What does alpha-amanitin do?
121
Inhibits RNA polymerase II leading to hepatic necrosis
122
Q0062:mRNA initiation codons
123
1. AUG (inAUGurates protein synthesis);2. GUG (rarely)
124
Q0063:What does the mRNA initiation codon code for?
125
Methionine in eukaryotes. formyl-methionine in prokaryotes.
126
Q0064:mRNA stop codons
127
1. UGA (U Go Away);2. UAA (U Are Away);3. UAG (U Are Gone)
128
Q0065:Define promoter of gene expression.
129
Site where RNA polymerase and multiple other transcription factors bind to DNA upstream from gene locus
130
Q0066:What characterizes a promoter of gene expression?
131
AT-rich upstream sequence with TATA and CAAT boxes
132
Q0067:What is the result of promoter mutation?
133
Dramatic decrease in amount of gene transcribed
134
Q0068:Define enhancer of gene expression.
135
Stretch of DNA that alters gene expression by binding transcription factors. May be located close to; far from; or even within the gene whose expression it regulates.
136
Q0069:Define operator of gene expression
137
Site where repressors bind
138
Q0070:What is alternative splicing?
139
Rearrangement of exons to make unique proteins
140
Q0071:What is the sequence of mRNA splicing?
141
1. Primary transcript combines with snRNP ("snerp") to form spliceosome;2. Lariat-shaped intermediate is generated;3. Lariat is released to remove intron precisely and join two exons
142
Q0072:Where and when does eukaryotic RNA processing happen?
143
In the nucleus after transcription
144
Q0073:What is the initial RNA transcript called?
145
heterogeneous nuclear RNA (hnRNA)
146
Q0074:What are the steps in processing hnRNA to make mRNA? (Note: This is more than splicing.)
147
1. Capping on 5' end with 7-methyl-G;2. Polyadenylation on 3' end (approximately 200 As);3. Splicing out of introns
148
Q0075:How many nucleotides does tRNA contain?
149
75 to 90 nucleotides
150
Q0076:What sequence does every tRNA share at the 3' end?
151
CCA along with a high percentage of chemically modified bases
152
Q0077:Amino acid binding to tRNA: Where (on the tRNA) and how?
153
Where: 3' end;How: Covalently
154
Q0078:What is the enzyme involved in processing tRNA
155
Aminoacyl tRNA synthetase (uses 1 ATP)
156
Q0079:Aminoacyl tRNA synthetase: Mechanism
157
1. Scrutinizes amino acid before it binds to tRNA;2. Binds AMP-amino group to 3' end of tRNA;3. Scrutinizes amino acid again. If incorrect; bond is hydrolyzed.
158
Q0080:What is wrong with a mischarged tRNA
159
Reads the regular bond but inserts wrong amino acid.
160
Q0081:Which position on the codon is the wobble position?
161
3rd position
162
Q0082:Names of the steps in protein synthesis
163
1. Initiation;2. Elongation;3. Termination
164
Q0083:Sequence of events in the initiation step of protein synthesis.
165
1. Initiation factors assemble the 40S ribosomal subunit with the initiator tRNA;2. mRNA and (60S?) ribosomal subunit combine with the 40S subunit;3. Initiation factors are released.
166
Q0084:Sequence of events in the elongation step of protein synthesis.
167
1. Aminoacyl tRNA binds to the A site;2. Peptidyltransferase catalyzes peptide bond formation;3. Peptidyltransferase transfers growing polypeptide to amino acid in A site;4. Ribosome advances three nucleotides toward 3' end of RNA moving peptidyl RNA to P site.
168
Q0085:Sequence of events in the termination step of protein synthesis.
169
1. Completed protein is released from ribosome;2. Ribosome dissociates.
170
Q0086:Role of ATP in protein synthesis
171
ATP does tRNA Activation (charging)
172
Q0087:Role of GTP in protein synthesis
173
GTP does tRNA Going places (aka translocation) and Gripping
174
Q0088:Role of A site in protein synthesis
175
A site holds incoming Aminoacyl tRNA.
176
Q0089:Role of P site in protein synthesis
177
P site accomodates growing Peptide.
178
Q0090:Role of E site in protein synthesis
179
E site holds Empty tRNA as it Exits
180
Q0091:Which post-translational modification involves removal of N or C terminal pro-peptides from zymogens to generate mature proteins?
181
Trimming
182
Q0092:What happens in post-translational trimming?
183
removal of N or C terminal pro-peptides from zymogens to generate mature proteins
184
Q0093:Which post-translational modification involves phosphorylation?
185
post-translational covalent alteration
186
Q0094:What happens during post-translational covalent alterations?
187
Either;1. Phosphorylation;2. Glycosylation;3. Hydroxylation
188
Q0095:Which post-translational modification involves glycosylation?
189
190
Q0096:Which post-translational modification involves hydroxylation?
191
192
Q0097:What happens during proteasomal degradation?
193
Attachment of ubiquitin to defective proteins to tag them for breakdown.
194
Q0098:Ubiquitin or Ubiquinone: Proteosomal degradation
195
Ubiquitin
196
Q0099:Ubiquitin or Ubiquinone: Coenzyme Q in oxidative phosphorylation
197
Ubiquinone
198
Q0100:Where in the cell does the following occur: Fatty acid oxidation (beta-oxidation)
199
Mitochondria
200
Q0101:Where in the cell does the following occur: acetyl-CoA production
201
Mitochondria
202
Q0102:Where in the cell does the following occur: Krebs cycle
203
Mitochondria
204
Q0103:Where in the cell does the following occur: Glycolysis
205
Cytoplasm
206
Q0104:Where in the cell does the following occur: Fatty acid synthesis
207
Cytoplasm
208
Q0105:Where in the cell does the following occur: Hexose Monophosphate Shunt
209
Cytoplasm
210
Q0106:Where in the cell does the following occur: Protein Synthesis
211
Rough endoplasmic reticulum in the cytoplasm
212
Q0107:Where in the cell does the following occur: Steroid synthesis
213
Smooth endoplasmic reticulum in the cytoplasm
214
Q0108:Where in the cell does the following occur: Gluconeogenesis
215
Pathway has steps in the mitochondria and in the cytoplasm
216
Q0109:Where in the cell does the following occur: Urea cycle
217
218
Q0110:Where in the cell does the following occur: Heme synthesis
219
220
Q0111:What type of bonds hold the phosphoryls together in ATP; and how much energy are the bonds worth?
221
Phosphoanhydride bonds are worth 7 kilocalories per mole (but only between the alpha and beta and the beta and the gamma; thus AMP's phosphoryl is not cleaved off for energy)
222
Q0112:How many ATP molecules are produced by aerobic metabolism of glucose?
223
38 via the Malate shuttle; and 36 via the G3P shuttle.
224
Q0113:In aerobic metabolism of glucose; which pathway produces 38 ATP?
225
Malate shuttle
226
Q0114:In aerobic metabolism of glucose; which pathway produces 36 ATP?
227
G3P shuttle
228
Q0115:How much ATP is produced by anaerobic glycolysis?
229
2 ATP per glucose
230
Q0116:What is this molecule an activated carrier of?: ATP
231
Phosphoryls
232
Q0117:What is this molecule an activated carrier of?: NADH
233
Electrons
234
Q0118:What is this molecule an activated carrier of?: NADPH
235
Electrons
236
Q0119:What is this molecule an activated carrier of?: FADH2
237
Electrons
238
Q0120:What is this molecule an activated carrier of?: Coenzyme A
239
Acyl
240
Q0121:What is this molecule an activated carrier of?: Lipoamide
241
Acyl
242
Q0122:What is this molecule an activated carrier of?: Biotin
243
CO2
244
Q0123:What is this molecule an activated carrier of?: Tetrahydrofolate
245
1-carbon units
246
Q0124:What is this molecule an activated carrier of?: Sadenosyl-methionine
247
Methyl groups
248
Q0125:What is this molecule an activated carrier of?: Thiamine Pyrophosphate
249
Aldehydes
250
Q0126:What activated carriers carry: Phosphoryl
251
ATP and GTP
252
Q0127:What activated carriers carry: Electrons
253
1. NADH;2. NADPH;3. FADH2
254
Q0128:What activated carriers carry: Acyl
255
1. Coenzyme A;2. Lipoamide
256
Q0129:What activated carriers carry: CO2
257
Biotin
258
Q0130:What activated carriers carry: 1-carbon units
259
1. Tetrahydrofolates (originally as formyl then methyl);2. Biotin (as CO2);3. S-adenosyl-methionine (as CH3)
260
Q0131:What activated carriers carry: CH3 groups
261
1. S-adenosyl-methionine;2. N5-methyl-THF
262
Q0132:What activated carriers carry: Formyl groups
263
N10-formyl-THF
264
Q0133:What activated carriers carry: Aldehydes
265
Thiamine Pyrophosphate
266
Q0134:ATP and methionine react to form what?
267
S-adenosyl-methionine
268
Q0135:What reacts to yield S-adenosyl-methionine?
269
ATP and methionine
270
Q0136:What vitamin is necessary for regeneration of Sadenosyl-methionine?
271
Vitamin B12
272
Q0137:When is NAD used?
273
Catabolic processes to carry reducing equivalents away as NADH
274
Q0138:When is NADPH used?
275
1. Anabolic process (steroid and fatty acid synthesis);2. Respiratory burst;3. P-450
276
Q0139:Where does NADPH come from?
277
HMP shunt
278
Q0140:What disease results from NADPH oxidase deficiency?
279
Chronic Granulomatous Disease
280
Q0141:This enzyme phosphorylates glucose with high affinity.
281
Hexokinase (as opposed to glucokinase)
282
Q0142:This enzyme phosphorylates glucose with low affinity.
283
Glucokinase (as opposed to hexokinase)
284
Q0143:This enzyme phosphorylates glucose with a low capacity.
285
286
Q0144:This enzyme phosphorylates glucose and is feedback inhibited by Glucose-6-Phosphate.
287
288
Q0145:This enzyme phosphorylates glucose with a high capacity.
289
290
Q0146:This enzyme phosphorylates glucose and is not feedback inhibited.
291
292
Q0147:Glucokinase: Where is it found and why does it do what it does?
293
Found in the liver and pancreatic beta cells. Phosphorylates glucose to sequester it after a big meal.
294
Q0148:Hexokinase: Where is it found and why does it do what it does?
295
Found in every cell's cytoplasm. Phosphorylates glucose to proceed with glycolysis.
296
Q0149:What are the net reactants and products in glycolysis.
297
Reactants;1. Glucose;2. 2 Phosphates;3. 2 ADP;4. 2 NAD;Products;1. 2 Pyruvate;2. 2 ATP;3. 2 NADH;4. 2 H+;5. 2 H20
298
Q0150:What are the rate limiting steps of glycolysis?
299
1. Hexokinase (Glucose to Glucose-6-P);2. *Phosphofructokinase-1 (Fructose-6-P to Fructose-1;6BP);3. Pyruvate kinase (Phosphoenolpyruvate to Pyruvate)
300
Q0151:Phosphofructokinase-1: What does it do; and what stimulates and inhibits it?
301
PFK-1 1-phosphorylates fructose-6-phosphate to produce Fructose-1;6-Bisphosphate;Inhibited by;1. ATP (don't need more of me);2. Citrate (my cycle is going well);Stimulated by;1. AMP (Hey; we need more ATP);2. Fructose-2;6-BP (The fact that I'm being made means there's tons of glucose.)
302
Q0152:Pyruvate kinase: What does it do; and what stimulates and inhibits it?
303
Pyruvate kinase converts phosphoenolpyruvate to pyruvate; thereby producing two ATP;Inhibited by;1. ATP (don't need more of me);2. Alanine (I came from pyruvate; so we don't need any more.);Stimulated by;1. Fructose-1;6-BP (I was told we needed more ATP; so here I am; so you better move the line along.)
304
Q0153:Pyruvate dehydrogenase: What does it do; and what stimulates and inhibits it?
305
Pyruvate dehydrogenase converts pyruvate to acetyl-coA; and produces NADH and CO2;Stimulated by: excess pyruvate?;Inhibited by;1. NADH (Listen; seriously; we don't need anymore of me.);2. NADH (You produce NADH; soon there'll be more of me.);3. Acetyl-CoA (Enough of me; save your pyrvuate.)
306
Q0154:What disease state is glycolytic enzyme deficiency generally associated with?
307
Hemolytic anemia
308
Q0155:What is the mechanism of hemolytic anemia in someone with glycolytic enzyme deficiency?
309
1. Lack of glycolysis leads to lack of ATP in RBCs;2. Lack of ATP leads to inactivity of Na; K-ATPase pump;3. Lack of the pump leads to sodium influx;4. Water follows sodium into the cell;5. The cell swells and bursts.
310
Q0156:What are the two most common glycolytic enzyme deficiencies?
311
Pyruvate kinase (95% of cases) followed by glucose phosphate isomerase (4% of cases)
312
Q0157:What are the 5 cofactors necessary for pyrvuate dehydrogenase?
313
Lipoic acid plus the first four B vitamins in their active forms;1. B1: TPP;2. B2: FAD;3. B3: NAD;4. B5: CoA
314
Q0158:What are the 5 cofactors necessary for alphaketoglutarate dehydrogenase?
315
Lipoic acid plus the first four B vitamins in their active forms;1. B1: TPP;2. B2: FAD;3. B3: NAD;4. B5: CoA
316
Q0159:What are the net reactants and products in the reaction that Pyruvate Dehydrogenase catalyzes?
317
Reactants;1. Pyruvate;2. CoA;3. NAD;Products;1. Acetyl CoA;2. CO2;3. NADH
318
Q0160:What activates and what inhibits pyruvate dehydrogenase?
319
Activated by exercise; which stimulates;1. Increased NAD/NADH ratio (We need more NADH.);2. Increased ADP (We need more ATP.);3. Ca2+ (More of me leads muscles to contract; and I'm taken up by mitochondria where I tell PDH that we need more ATP.);Inhibited by;1. NADH (No more of me please);2. ATP (likewise);3. Acetyl CoA (ditto)
320
Q0161:Lipoamide or lipoate: Which carries aldehydes?
321
Lipoamide
322
Q0162:Lipoamide or lipoate: Which is a cofactor for pyruvate dehydrogenase?
323
Lipoate (Lipoic acid)
324
Q0163:What toxin inhibits lipoic acid?
325
Arsenic
326
Q0164:What is the presentation of arsenic toxicity?
327
1. Vomiting;2. Rice water stools;3. Garlic breath
328
Q0165:Pyruvate dehydrogenase deficiency: Mechanism
329
Backup of pyruvate and alanine leads to lactic acidosis.
330
Q0166:Pyruvate dehydrogenase deficiency: Congenital or Acquired
331
Both. Acquired cases happen in cases of B1 deficiency (such as in alcoholics.)
332
Q0167:Pyruvate dehydrogenase deficiency: Presentation
333
Lactic acidosis and neurologic defects
334
Q0168:Pyruvate dehydrogenase deficiency: Treatment
335
Increased intake of ketogenic nutrients (such as high fat content or increased lysine and leucine)
336
Q0169:What are the miscellaneous fates of pyruvate; and what are the end products used for?
337
1. Alanine: Carries amino groups to the liver from muscle;2. Oxaloacetate: Replenishes TCA cycle or is used gluconeogenesis;3. Acetyl-CoA: Used in TCA cycle;4. Lactate: No good use
338
Q0170:Which tissues and organs primarily convert pyruvate into lactate?
339
1. RBCs and WBCs;2. Lens and cornea;3. Renal medulla;4. Testes
340
Q0171:What enzymes and cofactors are used in conversion of pyruvate to alanine?
341
Enzyme: Alanine Transaminase (ALT);Cofactors: None
342
Q0172:What enzymes and cofactors are used in conversion of pyruvate to oxaloacetate?
343
Enzyme: Pyruvate Carboxylase (contains biotin and magnesium);Cofactors: CO2 and ATP
344
Q0173:What are the reactants and products in the reaction catalyzed by pyruvate carboxylase?
345
Reactant;Pyruvate (with CO2 and ATP);Product;Oxaloacetate
346
Q0174:What are the reactants and products in the reaction catalyzed by lactate dehydrogenase?
347
This reaction is reversible; so the products can switch with the reactants;Reactants;1. Pyruvate;2. NADH (rehydrogenates in this direction);3. H+;Products;1. Lactate;2. NAD
348
Q0175:Where do the various pyruvate transformation reactions happen?
349
Cytosol;1. ALT (Alanine to/from pyruvate);2. LDH (Lactate to/from pyruvate);Mitochondria;1. Pyruvate carboxylase (pyruvate to oxaloacetate);2. Pyruvate dehydrogenase (pyruvate to acetyl-coa)
350
Q0176:Where does the Cori Cycle happen?
351
In the liver and muscle/RBCs;Liver: Pyruvate converts to glucose;Muscle/RBCs: Glucose converts to Pyruvate
352
Q0177:What is the purpose of the Cori cycle?
353
Transfers excess reducing equivalents from RBCs and the muscle to liver so they can function anaerobically
354
Q0178:What reaction does citrate synthase catalyze?
355
Oxaloacetate and acetyl coA combine to yield citrate.
356
Q0179:What is the order of the citric acid cycle beginning at citrate?
357
CAn I Keep Selling Sex For Money; Officer?;1. Citrate;2. cisAconitate;3. Isocitrate;4. alpha-Ketoglutarate;5. Succinyl CoA;6. Succinate;7. Fumarate;8. Malate;9. Oxaloacetate
358
Q0180:What is the order of the citric acid cycle beginning at cis-aconitate?
359
1. cis-Aconitate;2. Isocitrate;3. alpha-ketoglutarate;4. succinyl coA;5. succinate;6. fumarate;7. money;8. oxaloacetate;9. citrate
360
Q0181:What is the order of the citric acid cycle beginning at isocitrate?
361
1. isocitrate;2. alpha-ketoglutarate;3. succinyl coa;4. succinate;5. fumarate;6. malate;7. oxaloacetate;8. citrate;9. cisaconitate
362
Q0182:What is the order of the citric acid cycle beginning at alpha-ketoglutarate?
363
1. alpha-ketoglutarate;2. succinyl coA;3. succinate;4. fumarate;5. malate;6. oxaloacetate;7. citrate;8. cis-aconitate;9. isocitrate
364
Q0183:What is the order of the citric acid cycle beginning at succinyl coA?
365
1. succinyl coA;2. succinate;3. fumarate;4. malate;5. oxaloacetate;6. citrate;7. cis-aconitate;8. isocitrate;9. alphaketoglutarate
366
Q0184:What is the order of the citric acid cycle beginning at succinate?
367
Sex Feels Marvelous Over Cordelia And If Kruti Sucks-aNeil;1. Succinate;2. Fumarate;3. Malate;4. Oxaloacetate;5. Citrate;6. cis-aconitate;7. Isocitrate;8. alpha-ketoglutarate;9. succinyl coA
368
Q0185:What is the order of the citric acid cycle beginning at fumarate?
369
1. fumarate;2. malate;3. oxaloacetate;4. citrate;5. cisaconitate;6. isocitrate;7. alpha-ketoglutarate;8. succinyl coA;9. succinate
370
Q0186:What is the order of the citric acid cycle beginning at malate?
371
1. malate;2. oxaloacetate;3. citrate;4. cis-aconitate;5. isocitrate;6. alpha-ketoglutarate;7. succinyl coA;8. succinate;9. fumarate
372
Q0187:What is the order of the citric acid cycle beginning at oxaloacetate?
373
1. oxaloacetate;2. citrate;3. cis-aconitate;4. isocitrate;5. alphaketoglutarate;6. succinyl coA;7. succinate;8. fumarate;9. malate
374
Q0188:What stimulates and inhibits citrate synthase?
375
Stimulate: Nothing;Inhibit: ATP
376
Q0189:What stimulates and inhibits isocitrate dehydrogenase?
377
Stimulate: ADP;Inhibit;1. ATP;2. NADH
378
Q0190:What stimulates and inhibits alpha-ketoglutarate dehydrogenase?
379
Stimulate: Nothing;Inhibit;1. ATP;2. NADH;3. Succinyl CoA
380
Q0191:Which steps in the citric acid cycle produce CO2?
381
The steps where carbons are lost; the two structures after isocitrate each have one less carbon than the last;1. Isocitrate to alpha-ketoglutarate;2. alpha-ketoglutarate to succinyl coA
382
Q0192:Which steps in the citric acid cycle produce reducing equivalents?
383
The only step that produces FADH2 is the only one that also yields an F product;1. Isocitrate to alpha ketoglutarate (1 NADH);2. alpha-ketoglutarate to succinyl coA (1 NADH);3. Succinate to Fumarate (1 FADH2);4. Malate to Oxaloacetate (1 NADH)
384
Q0193:Which steps in the citric acid cycle produce ATP?
385
None; however 1 GTP is produced from the conversion of Succinyl CoA to Succinate.
386
Q0194:How much ATP is produced by the citric acid cycle per molecule of acetyl coA?
387
12 ATP;3 NADH x 3 ATP/NADH= 9 ATP;1 FADH2 x 2 ATP/FADH2 = 2 ATP;1 GTP x 1 ATP/GTP = 1 ATP;The total is 12 ATP
388
Q0195:How much ATP is produced by the citric acid cycle per molecule of glucose?
389
24;1 cycle;3 ATP/NADH= 9 ATP;1 FADH2 x 2 ATP/FADH2 = 2 ATP;1 GTP x 1 ATP/GTP = 1 ATP;The total is 12 ATP per acetyl coA. However; there are 2 acetyl coA molecules produced per glucose molecule. Thus the total is 24.
390
Q0196:Name the complexes and important coenzymes and cytochromes in the electron transport chain.
391
1. Complex I;2. Coenzyme Q;3. Complex III;4. Cytochrome C;5. Complex IV;6. Complex V
392
Q0197:Where in the electron transport chain do NADH and FADH2 release their electrons?
393
Complex I
394
Q0198:Where in the electron transport chain is O2 reduced to 2H2O?
395
Complex IV
396
Q0199:Where in the electron transport chain is ADP converted to ATP?
397
Complex V aka ATP synthase aka mitochondrial ATPase
398
Q0200:Name three classes of oxidative phosphorylation poisons.
399
1. Electron transport inhibitors;2. ATPase inhibitors;3. Uncoupling agents
400
Q0201:What is the mechanism of electron transport inhibitors?
401
1. Directly inhibit electron transport causing;2. Decreased protein gradient and decrease in O2 consumption; thereby;3. Blocking ATP synthesis
402
Q0202:What is the mechanism of ATPase inhibitors?
403
1. Directly inhibit mitochondrial ATPase causing;2. Increased protein gradient and increased oxygen consumption; but no ATP is produced because electron transport stops.
404
Q0203:What is the mechanism of uncoupling agents?
405
"Uncouples" ATP synthesis from gradient production;1. Increase permeability of membrane;2. Proton gradient decreases; but oxygen consumption increases; as the gradient is not being maintained;3. ATP synthesis stops; but electron transport continues.
406
Q0204:What is rotenone?
407
An electron transport inhibitor.
408
Q0205:What is the mechanism of CN?
409
Electron transport inhibition
410
Q0206:What is the mechanism of CO?
411
Electron transport inhibition
412
Q0207:What is antimycin A?
413
An electron transport inhibitor.
414
Q0208:What is the mechanism of oligomycin?
415
ATPase inhibition
416
Q0209:What is the mechanism of thermogenin?
417
Uncoupling protein OR UCP which is an uncoupling agent
418
Q0210:Where is thermogenin found?
419
Brown adipose tissue
420
Q0211:What is the mechanism of 2;4-dinitrophenol?
421
Uncoupling agent
422
Q0212:Name three uncoupling agents
423
1. UCPs (such as Thermogenin);2. 2;4-dinitrophenol;3. aspirin
424
Q0213:Name the irreversible enzymes in gluconeogenesis; and where they are found.
425
Pathway Produces Fresh Glucose;All the enzymes are found only in the liver; kidney; and intestinal epithelium;1. Pyruvate carboxylase in the mitochondria;2. PEP carboxykinase in the cytosol;3. Fructose-1;6-bisphosphatase in the cytosol;4. Glucose-6-Phosphatase in the endoplasmic reticulum
426
Q0214:Name the irreversible enzymes in glycolysis.
427
1. Hexokinase;2. Phosphofructokinase-1;3. Pyruvate kinase;4. Pyruvate dehydrogenase
428
Q0215:What are the requirements of PEP carboxykinase?
429
GTP
430
Q0216:Where does the pentose phosphate pathway happen?
431
Cytoplasm of Red Blood Cells; and in lactating mammary glands; liver; and adrenal cortex (all sites of fatty acid or steroid synthesis except RBCs)
432
Q0217:How much ATP is used in the pentose phosphate shunt?
433
434
Q0218:What are the main products of the pentose phosphate shunt and their uses?
435
1. NADPH (for fatty acid and steroid synthesis; glutathione reduction; and cytochrome P-450);2. Ribose-5-phosphate (for nucleotide synthesis);3. G3P and F6P (glycolytic intermediates)
436
Q0219:What are the key enzymes of the pentose phosphate shunt and are the reactions reversible or irreversible?
437
1. Glucose-6-phosphate dehydrogenase (irreversible);2. Transketolase (reversible)
438
Q0220:What does transketolase require?
439
Thiamine (Vitamin B1)
440
Q0221:What is the rate-limiting enzyme in the Pentose phosphate pathway?
441
Glucose-6-Phosphate Dehydrogenase
442
Q0222:What is glutathione used for?
443
Detoxification of free radicals and peroxides.
444
Q0223:What does NADPH deficiency in RBCs result in?
445
Hemolytic anemia
446
Q0224:Name some oxidizing agents that someone with a G6PD deficiency is vulnerable to.
447
1. Fava beans;2. Sulfonamides;3. Primaquine;4. Antituberculosis drugs
448
Q0225:What protection does G6PD deficiency provide?
449
Protection against malaria
450
Q0226:Which group is more likely to have G6PD deficiency?
451
Blacks
452
Q0227:What are Heinz bodies?
453
altered Hemoglobin precipitates within RBCs; found in G6PD deficiency
454
Q0228:What histologic change is seen in G6PD deficiency
455
Heinz bodies within red blood cells
456
Q0229:What is the etiology of fructose intolerance?
457
1. Lack of aldolase B;2. Build up of Fructose-1-Phosphate;3. Decrease in available phosphate;4. Inhibition of glycogenolysis and gluconeogenesis
458
Q0230:What is the clinical presentation of fructose intolerance?
459
hypoglycemia; jaundice; cirrhosis; and vomiting
460
Q0231:What is the difference in presentation between von Gierke's disease and fructose intolerance?
461
Both have hypoglycemia; jaundice; cirrhosis and vomiting;von Gierke's disease also has lactic acidosis whereas fructose intolerance does not.
462
Q0232:What is the treatment for fructose intolerance?
463
Decreased intake of both fructose and sucrose.
464
Q0233:What is the etiology of essential fructosuria?
465
Defect in fructokinase leading to lack of metabolism of fructose. Benign and asymptomatic
466
Q0234:What is the clinical presentation of essential fructosuria?
467
Fructose appears in the blood and urine
468
Q0235:Which is more serious; essential fructosuria or fructose intolerance?
469
Fructose intolerance; because it depletes the cells of phosphate.
470
Q0236:What is the etiology of classic galactosemia?
471
1. Absence of galactose-1-phosphate uridyl transferase;2. Build up of toxic substances including galactitol
472
Q0237:What is the presentation of classic galactosemia?
473
Early;1. Galactosemia;2. Galactosuria;3. Vomiting;4. Diarrhea;5. Jaundice;Late;1. Cataracts;2. Hepatosplenomegaly;3. Mental retardation
474
Q0238:How does galactokinase deficiency present?
475
1. Galactosemia;2. Galactosuria;More severe symptoms such as cataracts; hepatosplenomegaly and mental retardation can follow.
476
Q0239:What is the treatment for classic galactosemia?
477
Exclude galactose and lactose from the diet.
478
Q0240:What enzyme converts galactose to galactitol?
479
Aldose reductase
480
Q0241:What does aldose reductase do?
481
Converts galactose to galactitol
482
Q0242:What enzyme converts Galactose to galactose-1phosphate?
483
Galactokinase
484
Q0243:What enzyme converts Galactose-1-Phosphate to Glucose-1-Phosphate?
485
Uridyl transferase
486
Q0244:What enzyme converts UDP-galactose to UDPglucose?
487
4-epimerase
488
Q0245:What does galactokinase do?
489
converts Galactose to galactose-1-phosphate
490
Q0246:What does 4-epimerase do?
491
converts between UDP-galactose and UDP-glucose
492
Q0247:What does Uridyl transferase do?
493
1. converts UDP-glucose to UDP-galactose;2. converts Galactose-1-Phosphate to Glucose-1-Phosphate
494
Q0248:What enzyme converts UDP-glucose to UDPgalactose?
495
Uridyl transferase
496
Q0249:Which groups are more likely to be lactose intolerant?
497
1. Blacks;2. Asians
498
Q0250:What is the etiology of lactose intolerance?
499
Loss of brush-border lactase
500
Q0251:How does lactose intolerance present?
501
1. Bloating;2. Cramps;3. Osmotic diarrhea
502
Q0252:What is the treatment for lactose intolerance?
503
Avoid milk or add lactase pills to the diet
504
Q0253:What are the essential amino acids?
505
PVT TIM HALL;1. Phenylalanine;2. Valine;3. Threonine;4. Tryptophan;5. Isoleucine;6. Methionine;7. Histidine;8. Alanine;9. Leucine;10. Lysine
506
Q0254:What are the conditionally essential amino acids; and why are they conditionally essential?
507
The condition is age. They are necessary early in life during growth;Mnemonic: Babies CRY for Help;1. Cysteine;2. aRginine;3. tYrosine;4. Histidine
508
Q0255:Cysteine or Cystine: The amino acid
509
Cysteine
510
Q0256:Cysteine or Cystine: Two copies of the amino acid joined by a disulfide bond
511
Cystine
512
Q0257:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Phenylalanine
513
Essential;Both glucogenic and ketogenic
514
Q0258:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Valine
515
Essential;Glucogenic
516
Q0259:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Tryptophan
517
518
Q0260:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Threonine
519
520
Q0261:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Isoleucine
521
522
Q0262:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Methionine
523
524
Q0263:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Histidine
525
526
Q0264:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Arginine
527
528
Q0265:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Leucine
529
Essential;Ketogenic
530
Q0266:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Lysine
531
Essential;Ketogenic
532
Q0267:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Tyrosine
533
Conditionally essential (during life and early growth);(Phenylalanine and Tetrahydrobiopterin produce tyrosine and dihydrobiopterin);Both glucogenic and ketogenic
534
Q0268:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Glutamate
535
Inessential (made from alpha-ketoglutarate);Glucogenic
536
Q0269:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Aspartate
537
Inessential (made from asparagine or oxaloacetate by aspartate aminotransferase);Glucogenic
538
Q0270:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Proline
539
Inessential (Glutamate makes proline and ornithine);Glucogenic
540
Q0271:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Glycine
541
Inessential (synthesized during reactions involving tetrahydrofolate);Glucogenic
542
Q0272:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Cysteine
543
Conditionally essential (during life and early growth);(Methionine begets S-adenosyl methionine which begets intermediates which beget cysteine);Glucogenic
544
Q0273:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Alanine
545
Inessential (made from pyruvate by alanine aminotransferase in the Cori cycle);Glucogenic
546
Q0274:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Serine
547
Inessential (made from a descendant of 3PG and with an amine group from glutamate);Glucogenic
548
Q0275:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Glutamine
549
Inessential (made from glutamate);Glucogenic
550
Q0276:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Asparagine
551
Inessential (made from aspartate);Glucogenic
552
Q0277:Which amino acids are acidic?
553
Aspartate and glutamate are negatively charged at body pH
554
Q0278:Which amino acids are basic?
555
Arginine; Lysine and Histidine;Arginine and Lysine are increased in histones which bind negatively charged DNA;Histidine has no charge at body pH.
556
Q0279:Zinc deficiency: Presentation
557
"Delayed wound healing; hypogonadism; and decreased adult hair (axillary; facial; pubic)"
558
Q0280:Zinc deficiency: Predisposes to what?
559
Alcoholic cirrhosis
560
Q0281:Ethanol metabolism: All steps with enzymes and cofactors
561
"Step 1: Ethanol is oxidized by NAD (forming NADH) to acetaldehyde using alcohol dehydrogenase. Step 2: Acetaldehyde is oxidized by NAD (forming NADH) to acetate using acetaldehyde dehydrogenase."
562
Q0282:Ethanol metabolism: Limiting reagent
563
NAD+
564
Q0283:Ethanol metabolism: Order of kinetics of alcohol dehydrogenase
565
Zero-order kinetics
566
Q0284:Disulfiram: Mechanism
567
"Disulfiram inhibits acetaldehyde dehydrogenase; leading to an accumulation of acetaldehyde; leading to increased hangover symptoms."
568
Q0285:Which drug inhibits acetaldehyde dehydrogenase?
569
Disulfiram
570
Q0286:Ethanol hypoglycemia: mechanism
571
"1. Ethanol metabolism increases NADH/NAD ratio in the liver. 2. Pyruvate and oxaloacetate are reduced by NADH respectively to lactate and malate. 3. Decreased pyruvate and oxaloacetate leads to decreased gluconeogenesis. 4. Decreased gluconeogenesis leads to hypoglycemia."
572
Q0287:What are the consequences of the altered NADH/NAD ratio seen in alcoholics?
573
"Short-term: Hypoglycemia; Long-term: Hepatic fatty change"
574
Q0288:What is the mechanism behind chronic fatty change in alcoholics?
575
"1. Ethanol metabolism leads to an increased NADH/NAD ratio in the liver. 2. This ratio prefers fatty acid synthesis over glycolysis."
576
Q0289:Kwashiorkor: Clinical picture
577
Small child with a swollen belly and depigmented hair.
578
Q0290:Kwashiorkor: Clinical presentation
579
"Kwashiorkor results from protein-deficient MEALS. Malabsorbtion; Edema; Anemia; Liver (fatty change); Skin lesions"
580
Q0291:Protein malnutrition leads to what disease?
581
Kwashiorkor (as opposed to Marasmus from energy malnutrition)
582
Q0292:Energy malnutrition leads to what disease?
583
Marasmus (as opposed to Kwashiorkor from protein malnutrition)
584
Q0293:Marasmus: Clinical presentation
585
"Tissue and muscle wasting; loss of subcutaneous fat; and variable edema"
586
Q0294:"Chromatin structure: In the beads on a string analogy; what are the beads?"
587
"Start with a nucleosome core made up of an 8 histone cube (two each of positively-charged histones H2A; H2B; H3; and H4). Negatively charged DNA loops twice around nucleosome core."
588
Q0295:"Chromatin structure: In the beads on a string analogy; what is the string and how long is it?"
589
Histone H1 ties the nucleosomes together in a 30-nm fiber string
590
Q0296:Chromatin structure: What histones are included and which of these are not in the nucleosome core?
591
"H1 (only one not in the core); H2A; H2B; H3; and H4"
592
Q0297:Heterochromatin or Euchromatin: Which is more condensed?
593
Heterochromatin. Euchromatin is less condensed.
594
Q0298:Heterochromatin or Euchromatin: Which is less condensed?
595
Euchromatin. Heterochromatin is more condensed.
596
Q0299:Heterochromatin or Euchromatin: Which is transcriptionally active?
597
"Euchromatin (""eu"" means true; so think ""truly transcribed"")"
598
Q0300:Heterochromatin or Euchromatin: Which is transcriptionally inactive?
599
Heterochromatin
600
Q0301:Name the purines.
601
Adenine and Guanine
602
Q0302:Name the pyrimidines.
603
"Cytosine; Uracil; Thymine"
604
Q0303:Which base pair bond has 3 Hydrogen bonds?
605
Guanine to Cytosine
606
Q0304:Which base pair bond has 2 Hydrogen bonds?
607
Adenine to Thymine
608
Q0305:How many Hydrogen bonds does the Guanine to Cytosine pairing have?
609
610
Q0306:How many Hydrogen bonds does the Adenine to Thymine pairing have?
611
612
Q0307:Which amino acids are necessary for purine synthesis?
613
"Glycine; Aspartate; Glutamine"
614
Q0308:"In nucleic acids; what kind of substitution is a transition?"
615
"TransItion = Identical type (Purine for purine or pyrimidine for pyrimidine")
616
Q0309:"In nucleic acids; what kind of substitution is a transversion?"
617
"TransVersion = conVersion between types (Purine for pyrimidine or vice versa")
618
Q0310:What does it mean for genetic code to be unambiguous?
619
Each codon specifies only one amino acid.
620
Q0311:What does it mean for genetic code to be degenerate?
621
More than one codon may code for the same amino acid.
622
Q0312:What does it mean for genetic code to be redundant?
623
More than one codon may code for the same amino acid.
624
Q0313:Which amino acid is coded by only one codon?
625
Methionine
626
Q0314:"~ average pKa of carboxyl group on AA"
627
2.3
628
Q0315:"~ pKa of side chain of Aspartic Acid"
629
"<4"
630
Q0316:"~ pKa of side chain of Glutamic Acid"
631
">4"
632
Q0317:"~ pKa of side chain of Histidine"
633
634
Q0318:"~ pKa of side chain of Cysteine"
635
636
Q0319:"~ average pKa of amino group on AA"
637
9.6
638
Q0320:"~ pKa of side chain of Tyrosine"
639
10
640
Q0321:"~ pKa of side chain of Lysine"
641
10.5
642
Q0322:"~ pKa of side chain of Arginine"
643
12.5
644
Q0323:"An acid with a pKa of x serves as a buffer best at x + what?"
645
"positive or negative 1 (equal amounts of charged and uncharged acid)"
646
Q0324:"Trypsin cleaves peptides at which side of what residues?"
647
"C-terminal of lysine or arginine (the most basic amino acids)"
648
Q0325:"Cyanogen bromide cleaves peptides at which side of what residues?"
649
"C-terminal of methionine"
650
Q0326:"Pepsin cleaves peptides at which side of what residues?"
651
"C-terminal side of tyrosine; phenylalanine; and tryptophan (all have phenyl groups; these are the same bonds as chymotrypsin. Pepsin's action ceases when the NaHCO3 raises the pH of the intestinal contents)"
652
Q0327:"Chymotrypsin cleaves peptides at which side of what residues?"
653
"C-terminal side of tyrosine; phenylalanine; and tryptophan residues (all have phenyl groups; these are the same bonds as pepsin; whose action ceases when the NaHCO3 raises the pH of the intestinal contents)."
654
Q0328:"# of aas in one turn of alpha-helix"
655
3.6
656
Q0329:"Amino acids that disrupt alpha-helix"
657
"proline; many charged aas; bulky side chains"
658
Q0330:"Which reagent sequentially removes N-terminal residues from a polypeptide?"
659
"Phenylisothiocyanate (Edman degradation)"
660
Q0331:"Which reagent sequentially removes C-terminal residues from a polypeptide?"
661
"Carboxypeptidase"
662
Q0332:"What kind of inheritance and mutation is the alpha-1antitrypsin deficiency?"
663
"Autosomal recessive; single purine substitution (GAG to AAG)"
664
Q0333:"Anode: What does it attract?"
665
"Anions"
666
Q0334:"Anode: What does it contain?"
667
"Cations"
668
Q0335:"Cathode: What does it attract?"
669
"Cations"
670
Q0336:"Cathode: What does it contain?"
671
"Anions"
672
Q0337:"Inhibitors of electron transport from FMNH2 to Coenzyme Q"
673
"Amytal and Rotenone"
674
Q0338:"Inhibitors of electron transport from Cytochrome b to Cytochrome c"
675
"Antimycin A"
676
Q0339:"Inhibitors of electron transport from Cytochrome a+a3 to Oxygen"
677
"Cyanide; CO; and Sodium azide"
678
Q0340:"Where do GLUT1 receptors predominate over other GLUT receptors?"
679
"RBCs"
680
Q0341:"Where do GLUT4 receptors predominate over other GLUT receptors?"
681
"Adipose tissue and skeletal muscle"
682
Q0342:"Which tissues have cotransport of glucose?"
683
"Epithelial cells of the intestine; renal tubular cells; and choroid plexus"
684
Q0343:"Which tissues (7) need glucose as fuel?"
685
"Brain; RBCs; Renal medulla; lens; cornea; testes; exercising muscle"
686
Q0344:"Where is pyruvate carboxylase found and not found?"
687
"Found in mitochondria of liver and kidney cells; not foudn in mitochondria of muscle"
688
Q0345:"Where is Fructose 1-6 bisphosphatase found?"
689
"Liver and kidney"
690
Q0346:"What is the Cori cycle?"
691
"Lactate in muscle is shuttled to liver where it is turned into glucose."
692
Q0347:"How does glucagon stimulate gluconeogenesis?"
693
"Regulation of F2;6-BP and inactivation of Pyruvate Kinase via elevation of cAMP-dependent protein kinase A."
694
Q0348:"This oxidation accounts for about two thirds of the total oxygen consumption and ATP production in most animals; including humans."
695
"Oxidation of acetyl coA to CO2 and H2O."
696
Q0349:"What inhibits pyruvate dehydrogenase?"
697
"Acetyl CoA and NADH (no need for more of either). These activate PD kinase (Phosphorylates enzyme with ATP; which must be in abundance; so no more is needed)"
698
Q0350:"What stimulates pyruvate dehydrogenase?"
699
"ADP (need more ATP. Inhibits PD kinase and stimulates PD phosphatase.)"
700
Q0351:"Which is active?: Phosphorylated or dephosphorylated pyruvate dehydrogenase"
701
"Dephosphorylated."
702
Q0352:"What inhibits citrate synthase?"
703
"ATP and NADH (no need for more of either); Succinyl CoA (""Slow down partner; the guys ahead of you are trying to do their job!""); Acyl CoA fatty acid derivatives (Citrate provides acetyl CoA to synthesize fatty acids and activates acetyl CoA carboxylase; rate limiting enzyme of fatty acid synthesis)."
704
Q0353:"Where in glycolysis and TCA does CO2 come off?"
705
"3 places: Pyruvate to Acetyl CoA; Isocitrate to alphaketoglutarate; and alpha-ketoglutarate to Succinyl CoA"
706
Q0354:"What is the rate-limiting step of the TCA?"
707
"Isocitrate to alpha-ketoglutarate by isocitrate dehydrogenase"
708
Q0355:"What activates isocitrate dehydrogenase?"
709
"ADP"
710
Q0356:"What inhibits isocitrate dehydrogenase?"
711
"ATP and NADH"
712
Q0357:"Sources of Succinyl CoA"
713
"TCA intermediate; and from odd chained fatty acids; and from propionyl coA from metabolism of branched-chain amino acids."
714
Q0358:"Uses of Succinyl CoA"
715
"TCA intermediate; and biosynthesis of heme"
716
Q0359:"Where in the TCA does NADH come from?"
717
"Pyruvate to Acetyl CoA; Isocitrate to alpha-ketoglutarate; alpha-ketoglutarate to succinyl coA; Malate to Oxaloacetate"
718
Q0360:"Where in the TCA does FADH2 come from my dear?"
719
"Succinate to fumarate my sweet."
720
Q0361:"Why is FAD used to oxidize succinate?"
721
"Succinate is not powerful enough to reduce NAD."
722
Q0362:"What are the important products of the HMP pathway?"
723
"2 NADPH; Ribose; and glyceraldehyde-3-Phosphate and Fructose-6-phosphate"
724
Q0363:"Which major metabolic reactions require Thiamine as a cofactor?"
725
"TCA: Pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase; HMP shunt: Transketolase"
726
Q0364:"What is NADPH used for?"
727
"1. Reductive biosynthesis (eg fatty acids and steroids) 2. Reduction of oxygen directly (myeloperoxidase system's famed respiratory burst) and hydrogen peroxide indirectly (through reduction of glutathione) 3. Cytochrome P-450 mono-oxygenase system"
728
Q0365:"What is the famed respiratory burst?"
729
"The rapid conversion of O2 to superoxide using NADPH."
730
Q0366:"What disease process is due to a missing respiratory burst?"
731
"Chronic granulomatous disease"
732
Q0367:"Where is the mutation for G6PD?"
733
"Point mutation in coding region of the G6PD gene (Xlinked)"
734
Q0368:"What is the relation of polyols to sugars?"
735
"Polyols are monosaccharides where the carbonyl group is reduced to an alcohol."
736
Q0369:"What is a glycoside?"
737
"Carbohydrate attached to non-carbohydrate structures."
738
Q0370:"What is a reducing sugar?"
739
"A monosaccharide where the anomeric carbon (Carbon 1) is free."
740
Q0371:"What is the result of lack of disaccharidase activity of intestinal mucosa?"
741
"Osmotically active disaccharides suck water out of mucosa causing osmotic diarrhea."
742
Q0372:"Where is fructokinase found?"
743
"Liver (processes most dietary fructose); kidney; small intestine"
744
Q0373:"Why is fructose metabolism faster than glucose metabolism?"
745
"Bypasses PFK; major regulatory step of glycolysis."
746
Q0374:"What enzyme is missing in hereditary fructose intolerance?"
747
"Aldolase B"
748
Q0375:"What does aldose reductase do?"
749
"Reduces glucose to sorbitol"
750
Q0376:"Where is aldose reductase found?"
751
"Lens; retina; Schwann cells; kidney; placenta; RBCs; and gonads"
752
Q0377:"What does sorbitol dehydrogenase do?"
753
"Oxidizes sorbitol to fructose."
754
Q0378:"Where is sorbitol dehydrogenase found?"
755
"Liver and gonads (ovaries; seminal vesicles; sperm)"
756
Q0379:"Mechanism of sorbitol toxicity"
757
"Extra glucose freely enters cells containing aldose reductase which converts it to sorbitol. Sorbitol may not pass through; and low or absent sorbitol dehydrogenase prevents it from being changed to fructose. Strong osmotic effects lead to swelling and damage."
758
Q0380:"Chondroitin Sulfate: Where found?/Distinguishing characteristic from other GAGs"
759
"Cartilage; tendons; ligaments; aorta. Most abundant GAG in body."
760
Q0381:"Chondroitin Sulfate: Use/Mechanism"
761
"Form proteoglycan aggregates. Cartilage: Bind collagen and hold fibers in a tight; strong network"
762
Q0382:"Dermatan Sulfate: Where found?/Distinguishing characteristic from other GAGs"
763
"Found in skin; blood vessels; and heart valves"
764
Q0383:"Dermatan Sulfate: Use/Mechanism"
765
766
Q0384:"Keratan Sulfate: Where found?/Distinguishing characteristic from other GAGs"
767
"Found in cartilage proteoglycan aggregates with chondroitin sulfate; and in cornea. Most heterogeneous GAG."
768
Q0385:"Keratan Sulfate: Use/Mechanism"
769
770
Q0386:"Heparin: Where found?/Distinguishing characteristic from other GAGs"
771
"Intracellular compound (unlike other GAGs). Found in mast cells of artery walls; especially in lungs; liver; and skin"
772
Q0387:"Heparin: Use/Mechanism"
773
"Anticoagulant"
774
Q0388:"Heparan Sulfate: Where found?/Distinguishing characteristic from other GAGs"
775
"Extracellular; unlike heparin. Found in basement membrane and as a ubiquitous component of cell surfaces."
776
Q0389:"Heparan Sulfate: Use/Mechanism"
777
778
Q0390:"Hyaluronic Acid: Where found?/Distinguishing characteristic from other GAGs"
779
"Found in synovial fluid of joints; vitreous humor f eye; umbilical cord; and loose connective tissue. Unlike other GAGs: Unsulfated; not covalently attached to protein; and only GAG not limited to animal tissue; but also found in bacteria."
780
Q0391:"Hyaluronic Acid: Use/Mechanism"
781
"Lubricant and shock absorber"
782
Q0392:"Hunter's Syndrome vs Hurler's Syndrome: Enzyme deficiency"
783
"Hunter's: Iduronate sulfatase; Hurler's: alpha-L-iduronidase"
784
Q0393:"Hunter's Syndrome vs Hurler's Syndrome: Corneal clouding?"
785
"Hunter's: No; Hurler's: Yes"
786
Q0394:"Hunter's Syndrome vs Hurler's Syndrome: Mental retardation?"
787
"Both (Hunter's ranges from mild to severe)"
788
Q0395:"Hunter's Syndrome vs Hurler's Syndrome: Physical deformity?"
789
"Hunter's: Mild to severe; Hurler's: Dwarfing; coarse facial features; (gargoylism)"
790
Q0396:"Hunter's Syndrome vs Hurler's Syndrome: Which GAGs' degradation is affected?"
791
"Both: Dermatan sulfate and Heparan sulfate"
792
Q0397:"Hunter's Syndrome vs Hurler's Syndrome: Severity?"
793
"Hunter's: Less Hurler's: More"
794
Q0398:"Hunter's Syndrome vs Hurler's Syndrome: Inheritance?"
795
"Hunter's: X-linked Recessive; Hurler's (and all other mucopolysaccharidoses): Autosomal recessive"
796
Q0399:"Hunter's Syndrome vs Hurler's Syndrome: Aggressive behavior?"
797
"Hunter's: Yes; Hurler's: No"
798
Q0400:"Mnemonic for Hurler's syndrome: HURLERS. What does it stand for?"
799
"H: Hepatosplenomegaly/Heparan and Dermatan sulfate; U:Ugly facies; R: aRteries filled with GAGs; L: Liduronidase; E: Eyes clouded; early death; R: Retardation/Respiratory obstruction; S: Short/stubby fingers"
800
Q0401:"I-Cell disease: Pathophysiology"
801
"Inability of cell to phosphorylate mannose residues on glycoproteins indicating that they are lysosome bound."
802
Q0402:"I-Cell disease: Presentation"
803
"Skeletal abnormalities; restricted joint movement; coarse facial features; severe psychomotor impairment; death by 8 years"
804
Q0403:"Refsum Disease: Pathophysiology"
805
"Inability to degrade phytanic acid; resulting in accumulation in plasma and tissues"
806
Q0404:What is PKU?
807
think smelly; retarded babies
808
Q0405:What's one reason that binging on booze is a bad idea (aside from the ugly people you might sleep with;)?
809
alcohol-> increased NADH -> decreased gluconeogenesis -> acidosis -> huge ER bill
810
Q0406:What is Kwashiorkor?
811
think Starvin' Marvin
812
Q0407:What's another reason for not being an alky (besides the meetings)?
813
pellegra- vitamin B3 deficit that gives you a rash; the shits; and altered mental status (even when sober)
814
Q0408:Why is my urine black and what the Hell are these black dots on my eyes?!
815
alkaptonuria
816
Q0409:What is familial hypercholesterolemia?
817
defective LDL receptors-> accelerated atherosclerosis & xanthomas
818
Q0410:Name the fat soluble vitamins; Fat Ass!
819
think Eating Donuts Adds Kilocalories!
820
Q0411:Why could a person be deficient in fat soluble vitamins (esp considering that most of us have plenty of space to store these buggers!)?
821
think malabsorption- sprue; CF; too much of Mom's mineral oil tx (a spoon a day keeps the enema away!)
822
Q0412:What do B vitamin deficiencies result in (other than pernicious anemia)?
823
dermatitis; glossitis; shits
824
Q0413:What is beriberi? Hint: It's not a Voodoo curse.
825
vitamin B1 deficiency; spell it ber1ber1 (1=i); B1 is required for TPP (generates pyruvate) & transketolase (HMP shunt)
826
Q0414:What's the difference b/w wet & dry beriberi (other than that not so fresh feeling)?
827
dry= polyneuritis; muscle wasting;wet=dilated cardiomyopathy; edema
828
Q0415:What happens when you don't get your riboflavin (B2) on?
829
it's important to have ribo-"flava" (not just b/c the chicks dig it) but FAD & FMN come from it; flava is not just a FAD but a Functionally Mandatory Necessity! not having flava causes angular stomatitis; cheliosis; & corneal vascularization (chicks don't dig this)
830
Q0416:What the Hell is Pantothenate? Is that the crap in Pantene that will give my hair lusterous shine upon one washing?
831
it's B5. it helps make CoA & fatty acid synthase (no wonder why i'm so damn sexy!); lack of B5 gives you dermatitis; enteritis; alopecia & adrenal insufficiency. com'on girls; no guy wants a flaky skinned; bald girlfriend who's adrenal glands don't put out; so take your vitamins!
832
Q0417:Was I absent the day we learned about pyridoxine (B6) or do I merely have a B6 deficiency?
833
I was probably in class the day they taught this but suffering from convulsions/hyperirritablity due to my B6 deficiency brought on by the stresses of med school. it turns out that B6 is needed for ALT; AST (transamination); decarboxylation; & heme synthesis.
834
Q0418:Why is B12 important (for the umpteenth thousand time)?
835
B12 (aka cobalamin)required for homocysteine methylation & methylmalonyl-CoA handling; decreased homocysteine-> decreased methionine-> messed up myelin & increased methylmalonyl-CoA-> increased methylmalonic acid-> messed up myelin; vegetarians eat your heart out (no really; b/c its full of the B12 you'll need to thwart off macrocytic; megaloblastic anemia); US causes are due to malabsorption (vs dietary insufficiency); think sprue; Crohn's; pernicious anemia; do a Schilling test
836
Q0419:Why is folic acid so important? Does it justify all of the public service announcements?!
837
geeze; it's only important if you want to synthesize DNA/RNA! why the concern??
838
Q0420:What's biotin? Sounds like some tree hugging herbal medicine crap!
839
biotin is needed for carboxylating (eg oxaloacetate; malonyoCoA; methylmalonyl-CoA); deficits lead to dermatitis & enteritis due to antibiotic use or ingesting raw eggs (Rocky must have had some mad IBS!)
840
Q0421:Why do we need vitamin D?
841
b/c we don't want rickets! there is such thing as too much of a good thing; though- too much vitamin D-> hypercalcemia; stupor (think sarcoidosis)
842
Q0422:Why does Mom always shove vitamin C down your throat?
843
no Mom wants a kid w/scurvy unless she's British. vitamin C cross links collagen for healing; facilitates iron absorption; & needed for dopamine synthesis (is this why the British are so static?)
844
Q0423:What does vitamin E do?
845
protects RBCs
846
Q0424:What does vitamin K do?
847
K is for koagulation (spelling proficiency wasn't a requirement for med school matriculation); intestinal coodies are required for its synthesis (this is why babies & pts on broad spectrum anti-biotics have increased PT & PTT; warfin is it's nemesis (warfin is at war w/ vitamin K)
848
Q0425:Who are vitamin K's dependents?
849
after much investigation; the family court ruled that vitamin K is responsible supporting its progenous clotting factors II; VII; IX; X; & protein C (until age 18 whereby his progeny will bleed to death)
850
Q0426:What vitamin keeps your testicles plump and your hair flowing? (Guys; take notes!)
851
zinc; aside from small balls and baldness; lack of zinc will cause delayed wound healing & predispose you to alcoholic cirrhosis!
852
Q0427:Explain ethanol metabolism (and don't say you're too drunk to remember!)
853
ethanol-> acetaldehyde-> acetate; requires alcohol dehydrogenase; acetaldehyde dehydrogenase; NAD+; NADH; NAD+ is limiting reagent
854
Q0428:What gives you a hang-over? Hint: the answer isn't St. Ides Malt Liquor (although this is justifiable).
855
saturation of acetylaldehyde dehydrogenase; this is how antabuse works
856
Q0429:What is marasmus?
857
tissue/muscle wasting due to energy malnutrition (compare w/Kwashiorkor)
858
Q0430:What is a nucleosome?
859
it's the DNA AND core histones; the "beads" on the string that; altogether; comprise what's called chromatin
860
Q0431:What's so cool about H1 (histone 1)?
861
it's the histone that ties all the nucleosomes together. H1 is a rebel; not part of the core b/c it's too cool for the core.
862
Q0432:What is heterochromatin? Hint: chromatin does not have a sexual preference.
863
this is the transcriptionally abstaining form of chromatin. it's very uptight (looped around histones). it's not promiscuous like that loose slut euchromatin.
864
Q0433:Name the purines?
865
think "pure As Gold"- A;G
866
Q0434:What nucleotides bind to which?
867
G-C (strongest); A-T
868
Q0435:What goes into making a good purine?
869
besides sugar and spice and everything nice; purines require glycine; aspartate; and glutamine
870
Q0436:What's this difference b/w a transition mistake & a transversion mistake?
871
transItion= Identical substitute;transVersion= conVersion b/w types
872
Q0437:Why will mother nature never receive a Pulitzer Prize?
873
b/c her writing is redundant and lacks punctuation. in her defense; her writing is also unambiguous & used universally
874
Q0438:What's a silent mutation?
875
it's more palatable than a missense or nonsense mutation. think "it is better to remain silent & be thought a fool then to speak & remove all doubt". silent mutations are often the result of a tRNA wobble at the 3rd position (damn it tRNA; switch to decaf!)
876
Q0439:What is a missense mutation?
877
it's replacing one aa with a similar aa. kind of like substituting a democrat with a republican.
878
Q0440:What is a nonsense mutation?
879
think stop the nonsense
880
Q0441:What is a frame shift mutation?
881
this is really bad. its when your tRNA starts reading The Oddessy but becomes impatient & settles for the Cliff Notes.
882
Q0442:How are DNA topoisomerases & conditioner alike?
883
they both remove those pesky tangles!
884
Q0443:Why is DNA so codependent?
885
DNA; like many of us; needs the motivation of another to function. primase is the muse of DNA. she (or he) makes the RNA primer on which DNA polymerase III can begin replication.
886
Q0444:Does DNA polymerase ever look back?
887
it may seem that DNA polymerase has no regrets and unaffectedly carries on in his 5'->3' direction. in truth; though; he is very aware of his past mistakes & corrects them in the 3'->5' direction with exonucleases.
888
Q0445:What does DNA polymerase I have against RNA primer?
889
she has always hated that tart; RNA primer. thus she uses her exonucleases to degrade RNA primer at any given chance & fills in the gaps w/DNA (she is much against interrelationships b/w RNA & DNA (she's a deoxyribose supremicist).
890
Q0446:What keeps us from getting xeroderma pigmentosa?
891
we have endonucleases that kick out messed up nucleotides.
892
Q0447:Are all bases created equal?
893
NO! we make a lot of messed up bases that glycolases remove by cutting the base out at a pyramimidic site.
894
Q0448:What happens when there're irreconsilable differences b/w nucleotides?
895
if counseling doesn't work; then your body may hire a mismatch repair attorney. people w/hereditary nonpolyposis colon cancer lack access to litigation.
896
Q0449:What are the different kinds of RNA polymerases in eukaryotes?
897
I=rRNA;II=mRNA;III=tRNA
898
Q0450:Which RNA polymerase helps DNA open up?
899
II=mRNA poly. her nemesis is her mother-in-law alphaamantin (she thwarts all efforts of mRNA poly by serving her death cap mushrooms at all family get togethers).
900
Q0451:When does transcription begin?
901
in AUG just like school. codes for methionine
902
Q0452:When does transcription end (and don't say JUN)?
903
think U Go Away; U Are Away; U Are Gone (geeze; mRNA can take a hint!).
904
Q0453:What is a promoter?
905
well DNA likes to be recognized for its contributions too. it takes a lot of work to make protein & this should be rewarded. DNA doesn't care about money; having a trust fund an all; DNA is rewarded for its efforts by being somewhat relieved of duty by RNA poly & other transcription factors. this only takes place after DNA has done most of the work & has reached a TATA or CAAT box.
906
Q0454:What is an enhancer?
907
area of DNA that attracts transcription factors that enhance gene expression.
908
Q0455:What is an operator?
909
area of DNA that attracts transcription factors that repress gene expression.
910
Q0456:What's the difference b/w an intron & exon?
911
exons are what contribute to your growth while introns are just interuptions along the way (kind of like your first boyfriends); introns remain in the nucleus.
912
Q0457:How does hnRNA become whole in spite of all of her intron baggage?
913
well differences are the "splice" of life; so hnRNA discovers new meaning by redefining herself via new experiences. she decides to move on w/the aide of her snRP friends; forming a spliceosome alliance. They help her release her intron baggage; thereby allowing her to persue healthy relationships w/exons. happy w/the exons; hnRNA agrees to seal the deal by capping & polyadenylation (huge commitment). she is now referred to as mRNA (she's old fashioned & conceeded to the name change).
914
Q0458:What is Pellegra?
915
think 3D: diarrhea; dermatitis; dementia; caused by niacin (B3) def or a tryptophan def; B3 comes from tryptophan.
916
Q0459:Name the Vitamin D forms.
917
D2= ergocalciferol (drink milk); D3= cholecalciferol (get some sun); 25-OH D3= storage; 1;25 (OH)2 D3= active form-> intestinal absorption of calcium & phosphate.
918
Q0460:What is tRNA?
919
transfer RNA is the pre-aminoacid. the amino acid is covalently attached to its 3' end.
920
Q0461:What does tRNA look like?
921
cloverleaf shape; CCA at 3'end.
922
Q0462:what is aminoacyl-tRNA synthetase?
923
it's the enzyme that makes the amino acid; there's 1 for every kind of amino acid; it is also a proof reader for its amino acid; it requires ATP to make a peptide bond but will read the transcript w/o it.
924
Q0463:why does tRNA wobble?
925
b/c it need only accurately read the first two nucleotides; then it can just insert whatever (hopefully a nucleotide that codes for the proper amino acid).
926
Q0464:How is protein synthesis initiated?
927
a 30S ribosome unit/initiator tRNA are hooked up w/the assistance of initiation factors
928
Q0465:what happens during elongation?
929
1. aminoacyl tRNA binds to A site 2. peptidyltransferase makes a peptide bond & transfers growing polypeptide chain to A site 3. ribosome cruises 3 nucleotides toward 3' RNA while moving peptidyl RNA to P site.
930
Q0466:how is protein synthesis terminated?
931
protein is released from ribosome.
932
Q0467:what is the E site of the ribosome?
933
where tRNA is held while exiting.
934
Q0468:what is trimming?
935
post-translational modification; removal of N or C terminal from a zymogen.
936
Q0469:what is a covalent modification?
937
post-translational phosphor/glycos/hydroxylation.
938
Q0470:what does ubiquitin do?
939
it is the scarlet letter to be worn by defective proteins.
940
Q0471:how are cell cycles regulated?
941
by checkpoints that control the cell phases; regulators include cyclins; cdks; & tumor suppressors.
942
Q0472:what's included in mitosis?
943
PMAT; this is the shortest phase.
944
Q0473:what's included in interphase?
945
G1; S ; G2
946
Q0474:what's Go? Hint: it's not that lame movie.
947
it's where permanent cells stay if you refrain from dropping acid. neurons; skeletal mm; RBCs; cardiac mm.
948
Q0475:what are stable cells?
949
although they are compliant w/their Prosac tx; they are also capable of entering G1 if stimulated; otherwise they'll stay in G1; hepatocytes; lymphocytes
950
Q0476:what are labile cells?
951
they never Go; they are always movin' rapidly; though; marrow; gut epithelium; hair
952
Q0477:What takes place in the rough ER?
953
synthesis of exported secretory proteins & N-linked oligosaccharide addition (eg goblet cells & plasma cells are rich w/rough ER).
954
Q0478:What tkaes place in the smooth ER?
955
site of steriod synthesis & detox.
956
Q0479:What does the golgi do?
957
processing & packaging of proteins & lipids from ER to plasma membrane; modifies N-oligosaccharides on asparagine; adds O-oligisaccharides to serine & threonine; adds mannose6-P; assembles & sulfates proteoglycans & tyrosine.
958
Q0480:What is I-cell disease?
959
when mannose-6-P addition by the golgi doesn't target lysosome proteins to lysosome; coarse face; clouded corneas; restricted jiont movement; high plasma lysosomal enzymes; fatal in childhood.
960
Q0481:What is COPI?
961
vesicular trafficking protein; golgi -> ER (retrograde).
962
Q0482:What is COPII?
963
vesicular trafficking protein; RER -> cis-golgi (anterograde).
964
Q0483:What is clathrin?
965
vesicular trafficking protein; trans-golgi -> lysosomes; plasma membrane -> endosomes.
966
Q0484:What are microtubules?
967
polymerized dimers of alpha/beta-tubulin; 2GTP bound/dimer; part of flagella; cilia; & spindles.
968
Q0485:Name 5 drugs that act on microtubules?
969
mebendazole; taxol; griseofulvin; vincristine; colchicine.
970
Q0486:What is Chediak-Higashi syndrome?
971
microtubule polymerization defect.
972
Q0487:What are cilia made of?
973
microtubule doublets (9 +2)linked by dynein ATPase.
974
Q0488:What is Kartagener's syndrome?
975
defective dynein resulting in defective cilia.
976
Q0489:What is the plasma membrane made of?
977
cholesterol; phospholipids; sphingolipids; glycolipids; proteins.
978
Q0490:What is phosphatidylcholine(aka lecithin)?
979
component of RBC membrane; myelin; bile; & surfactant; esterfies cholesterol (eg LCAT).
980
Q0491:Name 2 drugs that inhibit the sodium pump?
981
ouabain binds K+ site; cardiac glycosides inhibit Na+/K+ATPase.
982
Q0492:Name the 4 types of collagen.
983
type 1= bone; skin; tendon; cornea; type II= catilage; type III = reticulin; type VI= basement membrane.
984
Q0493:What cells make collagen?
985
fibroblasts.
986
Q0494:How is collagen made?
987
preprocollagen synthesized in RER-> hydroxylation (req Vitamin C)-> glycosylation in golgi & synthesis of procollagen; exocytosis; proteolysis into tropocollagen; crosslinking forms collagen fibrils.
988
Q0495:What is Ehlers-Danlos syndrome?
989
defective collagen synthesis; hyperextendible skin; bruising; hypermobile joints; assoc w/berry aneurysms; inherited.
990
Q0496:What is osteogenesis imperfecta?
991
abnormal type I collagen synthesis; autosomal dominant; fractures; blue sclerae; hearing loss; dental problems.
992
Q0497:What is Marfan's syndrome?
993
defective fibrillin.
994
Q0498:What is elastin made of?
995
non-hydroxylated proline & lysine; elastin= tropoelastin + fibrillin scaffolding; elastase allows relaxed form; alpha1antitrypsin inhibits elastase.
996
Q0499:What happens in the mitochondria?
997
beta-oxidation; acetyl-CoA production; Kreb's cycle.
998
Q0500:What happens in the cytoplasm?
999
glycolysis; fatty acid synthesis; TTP shunt; protein synthesis (RER); steroid synthesis (SER).
1000
Q0501:What happens in both the mitochondria & the cytoplasm?
1001
gluconeogenesis (hepatocytes); urea cycle; heme
1002
Q0502:What is S-adenosyl-methionine (aka SAM)?
1003
ATP + methionine; transfers methyl units; relies on B12.
1004
Q0503:What is NADPH?
1005
electron acceptor used in anabolic processes (eg steroid synthesis); respiratory burst; & P-450; comes from the TPP shunt.
1006
Q0504:What is chronic granulomatous disease?
1007
deficit of NADPH oxidase (makes bleach out of O2); neutrophils can't kill bugs
1008
Q0505:What blood problem is commonly assoc. w/a glycolytic enzyme deficiency?
1009
hemolytic anemia b/c RBC's rely on glycolysis for energy.
1010
Q0506:What is the pyruvate dehydrogenous complex?
1011
the enzyme + vitamins B1;2;3;5; + lipoic acid; makes pyruvate into acetyl-CoA; activated by excercise.
1012
Q0507:What happens when you have a pyruvate dehydrogenase deficiency?
1013
lactic acidosis; neurologic defects; tx w/ketogenic nutrients.
1014
Q0508:How many ATP does 1 NADH make per turn?
1015
1016
Q0509:How many ATP does 1 FADH2 make per turn?
1017
1018
Q0510:Name 8 ox-phos poisons.
1019
rotenone; CN-; antimysin A; CO (e- transport inhibitors); oligomycin (ATPase inhibitor); UCP; 2;4-DNP; aspirin (uncouplers).
1020
Q0511:What happens when you have a glucose-6-P deficiency?
1021
cannot generate G6PD that is required to reduce glutathionine that detoxifies the free rads & peroxides; RBC's are especially susceptible to oxidizing agents & will form hemoglobin precipitates (Heinz bodies); Blacks; X-linked recessive.
1022
Q0512:What happens when you have an aldolase B deficiency?
1023
recessive; fructose accumulation; inhibition of glycogenolysis & gluconeogenesis; hypoglycemia; jaundice; cirrhosis; vomiting.
1024
Q0513:What is essential fructosuria?
1025
deficient fructokinase; benign.
1026
Q0514:What is galactosemia?
1027
autosomal recessive; absence of galactose-1-P uridyltransferase; accumulation of toxins (eg galactitol); cataracts ; hepatosplenomegaly; mental retardation
1028
Q0515:Name the essential aminoacids;Hint: PriVaTe TIM HALL.
1029
phe; val; thr; trp; ile; met; his; arg; leu; lys
1030
Q0516:What is hyperammonemia?
1031
can be acquired (eg liver damage) or hereditary (eg ornithine transcarbamoylase def); excess NH4+ -> inhibition of Kreb's cycle; tremor; slurring; vomiting; cerebral edema; blurred vision; somnolence.
1032
Q0517:Why do we need insulin?
1033
allows entrance of glucose into adipose & muscle cells.
1034
Q0518:What does insulin inhibit?
1035
glucagon release by alpha pancreas cells.
1036
Q0519:What does insulin do?
1037
increases: glucose transport; glycogen synthesis/storage; TG synthesis/storage;Na+ retention; protein synthesis (muscles).
1038
Q0520:What cells don't require glucose? Hint: BRICK L
1039
brain; RBCs; intestine; cornea; kidney; liver.
1040
Q0521:What role does adrenaline (aka epinephrine) play in glycogenensis & glycogenolysis?
1041
glycogenesis = (-);glycogenolysis = (+)for both muscle & liver glycogen stores.
1042
Q0522:What's the difference in glycogen response for muscle vs liver?
1043
muscle metabolizes glucose fast; the liver acts to maintain blood sugar levels.
1044
Q0523:How do you synthesize fat?
1045
acetyl-CoA (mitochondria)-> citrate shuttle (matrix)-> acetylCoA + biotin (cytoplasm)-> malonyl CoA-> FA
1046
Q0524:How do you burn fat?
1047
FA + CoA-> acyl-CoA (cytoplasm)-> carnitine shuttle (matrix)-> acyl-CoA which is beta-oxidized into acetyl-CoA groups.
1048
Q0525:What are ketone bodies?
1049
FA + aminoacids in the liver -> acetoacetate + betahydroxybutyrate. these products can be used in leiu of glucose during fasting & diabetes for the brain & muscle; fruity breath.
1050
Q0526:How do you make cholesterol?
1051
HMG-CoA reductase is the rate limiting step; converts HMG-CoA to mevalonate; most cholesterol gets esterfied by LCAT.
1052
Q0527:What drug inhibits cholesterol synthesis?
1053
lovestatin inhibits HMG-CoA reductase.
1054
Q0528:What are the essential fatty acids?
1055
linoeic & linolenic acid. eicosanoids rely on these babies!
1056
Q0529:What does pancreatic lipase do?
1057
degrades TG in small intestine.
1058
Q0530:What does lipoprotein lipase do?
1059
degrades TG in chylomicrons & VLDLs.
1060
Q0531:What does hepatic TG lipase do?
1061
degrades TG in IDL.
1062
Q0532:What does hormone sensitive lipase do?
1063
degrades TG in adipocytes.
1064
Q0533:What does LCAT do?
1065
esterfies cholesterol.
1066
Q0534:What does CEPT do?
1067
transfers cholesterol esters to other lipoproteins.
1068
Q0535:What does A1 do?
1069
activates LCAT.
1070
Q0536:What does B-100 do?
1071
binds to LDL receptor & mediates VLDL secretion.
1072
Q0537:What does CII do?
1073
it's a cofactor for lipoprotein lipase.
1074
Q0538:What does B-48 do?
1075
mediates chylomicron secretion.
1076
Q0539:What does E do?
1077
mediates extra remnant uptake.
1078
Q0540:What are lipopriteins made of?
1079
cholesterol; TG; phospholipids.
1080
Q0541:What do chylomicrons do?
1081
takes TG from intestine to peripheral tissues & cholesterol to liver.
1082
Q0542:Which lipoproteins do chylomicrons need?
1083
B-48; A;C;E.
1084
Q0543:What does VLDL do?
1085
takes liver TGs to peripheral tissues.
1086
Q0544:Which lipoproteins do VLDLs need?
1087
B-100; C-II; E
1088
Q0545:What does IDL do?
1089
comes from VLDL degradation. takes TGs & cholesterol to liver to process into LDL.
1090
Q0546:What lipoproteins does IDL need?
1091
B-100; E.
1092
Q0547:What does LDL do?
1093
takes liver cholesterol to peripheral tissues; formed from VLDL via lipoprotein lipase in peripheral tissue.
1094
Q0548:What lipoproteins does LDL need?
1095
B-100.
1096
Q0549:What does HDL do?
1097
takes peripheral cholesterol to liver; also a storage for apoC & apoE for chylomicron & VLDL metabolism; secreted by liver & intestine.
1098
Q0550:How is heme broken down?
1099
heme-> biliverdin-> bilirubin -> liver -> bile.
1100
Q0551:What is heme made of?
1101
2 alpha + 2 beta polypetide subunits.
1102
Q0552:Explain R vs T forms of heme.
1103
T = low O2 affinity; R= high O2 affinity. T unloads!
1104
Q0553:What favors T form over R form heme?
1105
increased: Cl-; H+; CO2; 2;3-BPG; temperature favor O2 unloading; shifts curve right.
1106
Q0554:What happens to CO2?
1107
travels as bicarbonate in blood to lungs; binds to globin (not heme); favors T form of heme.
1108
Q0555:What is methemoglobin?
1109
this is oxidized hemoglobin (Fe3+) that prefers CN- over O2; push nitrates!
1110
Q0556:What is carboxyhemoglobin?
1111
hemoglobin has a fettish for CO.
1112
Q0557:What are the four irreversible enzymes in glycolysis?
1113
1. hexokinase/glucokinase;2. phosphofructokinase-1;3. pyruvate kinase;4. pyruvate dehydrogenase
1114
Q0558:What is the rate-limiting step in glycolysis?
1115
Conversion of Fructose-6-phosphate into Fructose-1;6 BP via phosphofructokinase 1
1116
Q0559:What factor negatively inhibits hexokinase in glycolysis?
1117
Glucose-6-Phosphate
1118
Q0560:What factors (2) negatively inhibit PFK-1 in glycolysis?
1119
1. ATP;2. citrate
1120
Q0561:What factors (2) positivcely affect PFK-1 in glycolysis?
1121
1. AMP;2. fructose-2;6-BP
1122
Q0562:What factors (2) NEGATIVELY inhibit pyruvate kinase in glycolysis?
1123
1. ATP;2. alanine
1124
Q0563:What factor positively affects pyruvate kinase in glycolysis?
1125
fructose-1;6 BP
1126
Q0564:What factors (3) negatively inhibit pyruvate dehydrogenase in glycolysis?
1127
1. ATP;2. NADH;3. acetyl-Coa
1128
Q0565:What enzymes (2) CONVERT D-glucose into Glucose-6-phosphate in glycolysis?
1129
1. hexokinase;2. gLucokinase (liver only)
1130
Q0566:What enzyme CONVERTS PEP into pyruvate?
1131
pyruvate kinase
1132
Q0567:What enzyme CONVERTS pyruvate into AcetylCoA
1133
pyruvate dehydrogenase
1134
Q0568:What enzyme converts Fructose-6-P into Fructose1;6-BP?
1135
Phosphofructokinase (rate-limiting step)
1136
Q0569:What glycolytic enzyme deficiencies result in hemolytic anemia? (7)
1137
1. hexokinase;2. glucose phosphate isomerase;3. aldolase;4. triosephosphate isomerase;5. phosphate glycerate kinase;6. enolase;7. pyruvate kinase
1138
Q0570:Do RBCs possess mitochondria?
1139
no: metabolize glucose anaerobically and thus depend solely on glycolysis
1140
Q0571:Order of enzymes in a phagolysosome that destroy bacteria in oxygen-dependent respiratory burst?
1141
1. NADPH OXIDASE;2. SOD;3. MYELOPEROXIDASE
1142
Q0572:What enzyme converts O2 into its free radical?
1143
NADPH OXIDASE; using NADPH
1144
Q0573:What enzyme converts an O2 free radical into H2O2?
1145
SOD
1146
Q0574:What enzyme converts H2O2 into HOCl free radical
1147
myeloperoxidase; using a chloride anion
1148
Q0575:What enzyme converts GSH into GSSG?
1149
catalase; via oxidation using H2O2
1150
Q0576:What enzyme converts NADPH into NADP+ using GSSG?
1151
glutathione reductase; resulting in GSH and NADP+
1152
Q0577:What enzyme restores NADPH by converting G6P into 6-phosphogluconolactone?
1153
Glucose-6-phosphate dehydrogenase
1154
Q0578:A deficiency in what enzyme can cause chronic granulomatous disease?
1155
NADPH OXIDASE DEFICIENCY --> CGD
1156
Q0579:How many enzymes does the Pyruvate Dehydrogenase Complex contain?
1157
3 enzymes
1158
Q0580:What are the 5 co-factors for the Pyruvate Dehydrogenase Complex?
1159
1. Pyrophosphate;2. FAD;3. NAD;4. CoA;5. Lipoic acid;(First 4 B vitamins plus lipoic acid)
1160
Q0581:From what is PyroPhosphate derived in the PDH complex?
1161
1. Vitamin B1 (thiamine);2. TPP
1162
Q0582:From what is FAD derived in the PDH complex?
1163
Vitamin B2 (riboflavin)
1164
Q0583:From what is NAD derived in the PDH complex?
1165
Vitamin B3 (niacin)
1166
Q0584:From what is CoA derived in the PDH complex?
1167
Vitamin B5 (pantothenate)
1168
Q0585:What is the overall reaction in the PDH complex?
1169
pyruvate + NAD+ + CoA --> acetyl-CoA + CO2 + NADH
1170
Q0586:What three factors activate PDH during exercise?
1171
1. increase in NAD+/NADH ratio;2. increase in ADP ratio;3. increase in Ca2+
1172
Q0587:PDH complex is similar to what other complex by having the same cofactors; similar substrate; and similar action?
1173
PDH is similar to alpha-KG DH complex
1174
Q0588:What enzyme deficiency cause cause lactic acidosis?
1175
PDH complex deficiency from a backup of pyruvate and alanine
1176
Q0589:Alcoholism with a Vitamin B1 deficiency can also cause what (besides Wernicke-Korsakoffe)?
1177
PDH deficiency (B1 is a co-factor)
1178
Q0590:What are the findings in PDH complex deficiency?
1179
neurologic deficits
1180
Q0591:What is the treatment for PDH complex deficiency?
1181
1. increase intake of KETOGENIC nutrients (high fat content);2. increase intake of LEUCINE and LYSINE
1182
Q0592:What four items can pyruvate be converted into?
1183
1. alanine;2. oxaloacetate;3. acetyl-Coa;4. lactate
1184
Q0593:How can OAA be used after it is converted from pyruvate?
1185
1. replenish TCA cycle;2. gluconeogenesis
1186
Q0594:What enzyme converts pyruvate into alanine?
1187
ALT
1188
Q0595:What enzyme converts pyruvate into OAA?
1189
pyruvate carboxylase (using CO2 + ATP)
1190
Q0596:What enzyme converts pyruvate into Acetyl-CoA?
1191
PDH (using NAD+ and releasing CO2)
1192
Q0597:What enzyme converts pyruvate into lactate in the cytosol?
1193
LDH (using NADH)
1194
Q0598:What is the purpose of the Cori cycle?
1195
Cori cycle transfers excess reducing equivalents from RBCs and muscle --> liver; allowing muscle to function anaerobically.
1196
Q0599:In the TCA cycle; what are the products per one acetyl CoA?
1197
1. 3 NADH;2. 1 FADH2;3. 2 CO2;4. 1 GTP
1198
Q0600:How many ATP are produced from a single acetylCoa in the TCA cycle?
1199
12 ATP/acetyl-Coa in the TCA cycle
1200
Q0601:How many ATP are produced from a single glucose molecule in the TCA cycle?
1201
24 ATP
1202
Q0602:In the TCA cycle; what are the products per one glucose molecule?
1203
1. 6 NADH;2. 2 FADH2;3. 4 CO2;4. 2 GTP
1204
Q0603:What enzyme converts pyruvate into Acetyl-Coa?
1205
PDH in glycolysis
1206
Q0604:What three factors inhibit PDH?
1207
1. ATP;2. Acetyl-Coa;3. NADH
1208
Q0605:What factor inhibits Citrate synthase?
1209
ATP
1210
Q0606:wWhat enzyme converts Acetyl-CoA + OAA --> citrate?
1211
citrate synthase in the TCA cycle
1212
Q0607:What enzyme converts Isocitrate into alpha-KG?
1213
Isocitrate dehydrogenase
1214
Q0608:What 2 factors negatively inhibit Isocitrate DH?
1215
1. ATP;2. NADH
1216
Q0609:What factor positively affects Isocitrate DH?
1217
ADP
1218
Q0610:What two molecules are released in the conversion of Isocitrate into alpha-KG?
1219
1. CO2;2. NADH
1220
Q0611:what enzyme converts alpha-KG into Succinyl-CoA
1221
alpha-KG DH
1222
Q0612:What two molecules are released in the conversion of alpha-KG into Succinyl CoA?
1223
1. CO2;2. NADH
1224
Q0613:What 3 factors negatively inhibit alpha-KG?
1225
1. Succinyl-CoA;2. NADH;3. ATP
1226
Q0614:What 2 molecules are released in the conversion of Succinyl-CoA --> Succinate?
1227
1. GTP;2. CoA
1228
Q0615:What molecule is released in the conversion of Succinate --> Fumarate?
1229
FADH2
1230
Q0616:What molecule is released in the conversion of malate into OAA?
1231
NADH
1232
Q0617:1 NADH yields how many ATP?
1233
3 ATP per 1 NADH
1234
Q0618:1 FADH2 yields how many ATP?
1235
2 ATP per 1 FADH2
1236
Q0619:Name 4 electron transport inhibitors:
1237
1. rotenone;2. antimycin A;3. CN-;4. CO
1238
Q0620:What is the end result of electron transport inhibition?
1239
1. decrease in proton gradient;2. block of ATP synthesis
1240
Q0621:What is an example of a mitochondrial ATPase inhibitor?
1241
Oligomycin
1242
Q0622:The enzymes for gluconeogenesis are located in what organs only?
1243
1. liver;2. kidney;3. intestinal epithelium
1244
Q0623:Can muscle participate in gluconeogenesis?
1245
NO
1246
Q0624:The pentose phosphate pathway (HMP Shunt) produces [;] from G6P for nucleotide synthesis
1247
ribose-5-P
1248
Q0625:The Pentose Phosphate Pathway (HMP Shunt) produces [;] from [;] for FA and steroid biosynthesis and for maintaining reduced glutathione inside RBCs.
1249
NADPH from NADP+
1250
Q0626:All rxns in the HMP Shunt ocur in the [;].
1251
cytoplasm
1252
Q0627:[;] ATP is used or produced in the HMP Shunt.
1253
NO
1254
Q0628:What are the organs involved in the HMP Shunt (Pentose Phosphate Pathway)?
1255
1. lactating mammary glands;2. liver;3. adrenal cortex;4. all sites of FA or steroid synthesis
1256
Q0629:[;] is the rate-limiting enzyme in the HMP shunt
1257
G6PD
1258
Q0630:Hemolytic anemia is caused by a decrease in [;] in RBCs due to poor RBC defense against oxidizing agents.
1259
NADPH
1260
Q0631:What are the oxidizing agents involved in hemolytic anemia due to a G6PD deficiency?
1261
1. fava beans;2. sulfonamide;3. primaquine;4. Anti-TB drugs
1262
Q0632:What are Heinz bodies?
1263
altered H.emoglobin precipitates within RBCs
1264
Q0633:What is the inheritance pattern of G6PDH deficiency?
1265
X-linked recessive
1266
Q0634:Glucose-6-Phosphate DH converts G6P and NADP+ into what?
1267
1. 6-PG;2. NADPH
1268
Q0635:Glutathion reductase converts NADPH and oxidized GS-SG into what?
1269
1. NADP+;2. 2 GSH (reduced)
1270
Q0636:Hydrogen peroxide reacts with what to produc GS-SG (oxidized) + 2 H2O?
1271
2 GSH (reduced)
1272
Q0637:What enzyme is associated with Essential fructosuria?
1273
Fructokinase
1274
Q0638:What enzyme is associated with Fructose intolerance?
1275
Aldolase B
1276
Q0639:What is the end result of Fructose intolerance?
1277
1. Fructose-1-phosphate accumulates;2. DECREASE in available phosphate;3. INHIBITION of GLYCOGENOLYSIS and GLUCONEOGENSIS
1278
Q0640:What are the symptoms of hereditary aldolase B deficiency (Fructose intolerance)?
1279
1. hypoglycemia;2. jaundice;3. cirrhosis;4. vomiting
1280
Q0641:What is the treatment for Fructose intolerance?
1281
1. DECREASE intake of fructose;2. DECREASE intake of sucrose (glucose + FRUCTOSE)
1282
Q0642:Aldolase B converts Fructose-1-P into what 2 products?
1283
1. DHAP;2. glyceraldehyde
1284
Q0643:What enzyme converts Glyceraldehyde into Glyceraldehyde-3-P?
1285
Triose kinase
1286
Q0644:What enzyme converts Galactose-1-P to Glucose-1-P?
1287
Galactose-1-phosphate uridyltransferase
1288
Q0645:Galactosemia is caused by the absence of what enzyme?
1289
Galactose-1-phosphate uridyl transferase
1290
Q0646:What are the symptoms of galactosemia?
1291
1. cataracts;2. hepatosplenomegaly;3. mental retardation
1292
Q0647:What is the treatment of galactolsemia?
1293
1. EXCLUDE galactose;2. EXCLUDE LACTOSE (galactose + glucose) from diet
1294
Q0648:What causes the symptoms of galactosemia?
1295
accumulation of toxic substances (galactitol)
1296
Q0649:What enzyme converts UDP-galactose back into UDP-glucose?
1297
4-epimerase
1298
Q0650:What is the mnemonic for all essential amino acids?
1299
P.riV.aT.e T.I.M. H.A.L.L.
1300
Q0651:What are the glucogenic/ketogenic essential amino acids?
1301
1. P.henylalanine;2. I.le;3. T.ryptophan;"Gluco/ketogenic is the P.I.T.s"
1302
Q0652:What are the Glucogenic essential amino acids?
1303
1. M.ethionine;2. T.hreonine;3. V.aline;4. A.rginine;5. H.istidine;"MTV? AH!"
1304
Q0653:What essential amino acids are required during growth?
1305
1. Arginine;2. Histidine;both increase GH
1306
Q0654:What basic amino acid has no net charge at body pH?
1307
Histidine
1308
Q0655:What is the most basic AA?
1309
Arginine
1310
Q0656:What 2 amino acids are found in histones?
1311
1. Arginine;2. Lysine;(both have an extra NH3 group)
1312
Q0657:What is formed in the conversion of glutamate --> alpha-KG?
1313
NADPH
1314
Q0658:The Urea Cycle degrades [;] into amino groups.
1315
amino acids
1316
Q0659:What accounts for 90% of nitrogen in the urine?
1317
Urea Cycle
1318
Q0660:In what organ does the Urea Cycle occur?
1319
liver
1320
Q0661:In what organelle does carbamoyl phosphate incorporation occur?
1321
mitochondria
1322
Q0662:Where do the remaining steps of the Urea Cycle occur; besides the mitochondria?
1323
cytosol
1324
Q0663:What is released in the conversion of Arginine --> Ornithine?
1325
Urea
1326
Q0664:Tryptophan is used to form what 3 things?
1327
1. Niacin;2. Serotonin;3. Melatonin
1328
Q0665:Glycine is used to form what?
1329
glycine --> porphyrin --> heme
1330
Q0666:Arginine is used to form what?
1331
1. Creatine;2. Urea;3. Nitric oxide
1332
Q0667:In PKU; what constituents(2) are deficient?
1333
1. phenylalanine hydroxylase;2. tetrahydrobiopterin cofactor
1334
Q0668:What are the findings (5) in PKU?
1335
1. MR;2. growth retardation;3. fair skin;4. eczema;5. musty body odor
1336
Q0669:What is the R(x) for PKU?
1337
1. DECREASE Phe;2. INCREASE Tyr in diet
1338
Q0670:What are the 3 phenyllactones that accumulate in PKU?
1339
1. phenylacetate;2. phenyllactate;3. phenylpyruvate
1340
Q0671:What is the incidence of PKU?
1341
1/10;000
1342
Q0672:What enzyme converts Phe --> Tyr?
1343
Phenylalanine hydroxylase
1344
Q0673:What enzyme converts DHB --> THB and restores NADP+?
1345
dihydropterin reductase
1346
Q0674:What are the 2 possible causes of albinism?
1347
1. deficiency of TYROSINASE (inability to synthesize malanin from tyrosine);2. Defective tyrosine transporters (DECREASE amounts of tyrosine and thus melanin)
1348
Q0675:[;] can result from a lack of migration of neural crest cells
1349
Albinism
1350
Q0676:Full-term neonate of uneventful delivery becomes mentally retarded and hyperactive and has a musty odor. What is the D(x)?
1351
PKU
1352
Q0677:Stressed executive comes home from work; consumes 7 or 8 martinis in rapid succession before dinner; and becomes hypoglycemic. What is the mechanism?
1353
NADH increase prevents gluconeogenesis by shunting pyruvate and OAA to lactate and malate.
1354
Q0678:2-year-old girl has an increase in abdominal girth; failure to thrive; and skin and hair depigmentation. What is the D(x)?
1355
Kwashiorkor
1356
Q0679:Alcoholic develops a rash; diarrhea; and altered mental status. What is the vitamin deficiency?
1357
Vitamin B3 (pellagra)
1358
Q0680:51-year-old man has black spots in his sclera and has noted that his urine turns black uon standing. What is the D(x)?
1359
Akaptonuria
1360
Q0681:25-year-old male complains of severe chest pain and has xanthomas of his Achilles tendon. What is the disease; and where is the defect?
1361
Familial hypercholesterolemia; LDL receptor.
1362
Q0682:What is the definition of UNAMBIGUOUS when describing the genetic code?
1363
each codon specifies only 1 AA
1364
Q0683:What is the definition of Degenerate when describing the genetic code?
1365
more than 1 codon may code for the same AA
1366
Q0684:Why organism does NOT have a commaless; nonoverlapping genetic code?
1367
viruses
1368
Q0685:What are the EXCEPTIONS to a universal genetic code?
1369
1. mitochondria;2. archaeobacteria;3. Mycoplasma;4. yeasts (some)
1370
Q0686:[;] makes an RNA primer on which DNA polymerase III can initiate replication in PROKARYOTIC DNA replication.
1371
Primase
1372
Q0687:[;] degrades the RNA primer in PROKARYOTIC DNA replication.
1373
DNA polymerase I
1374
Q0688:DNA polymerase III has [;] synthesis and proofreads with [;] exonuclease
1375
5'--> 3' synthesis; 3' --> 5' exonuclease (DNA polymerase III for PROKARYOTES)
1376
Q0689:In PROKARYOTIC DNA replication; DNA polymerase I excises the RNA primer with a [;] exonuclease
1377
5' --> 3'
1378
Q0690:Where does replication begin for Eurkaryotic DNA polymerases?
1379
consensus sequences of AT base pairs.
1380
Q0691:What is the function of Eukaryotic DNA polymerase alpha?
1381
synthesize RNA PRIMERS
1382
Q0692:What is the function of Eukaryotic DNA polymerase beta?
1383
LEADING-strand DNA
1384
Q0693:What is the function of Eukaryotic DNA polymerase gamma?
1385
LAGGING-strand DNA
1386
Q0694:What is the function of Eukaryotic DNA polymerase delta?
1387
MITOCHONDRIAL DNA
1388
Q0695:What is the function of Eukaryotic DNA polymerase epsilon?
1389
DNA repair
1390
Q0696:X-rays can damage DNA; and a repair defect can cause what?
1391
ataxia-telangiectasia
1392
Q0697:Radiation can damage DNA; and a repair defect can cause what?
1393
Bloom's syndrome
1394
Q0698:Cross-linking agents can damage DNA; and a repair defect can cause what?
1395
Fanconi's anemia
1396
Q0699:DNA; RNA; and protein are all synthesized in what direction?
1397
5' --> 3'
1398
Q0700:AA's are linked [;] to [;]
1399
N --> C
1400
Q0701:What are the types of RNA polymerases for EUKARYOTES?
1401
1. RNA POLYMERASE I;2. RNA POLYMERASE II;3. RNA POLYMERASE III
1402
Q0702:Do RNA polymerases have proofreading function?
1403
NO
1404
Q0703:Alpha-amantin inhibits which RNA polymerase?
1405
RNA polymerase II
1406
Q0704:Where does RNA polymerase II bind?
1407
promotor site of DNA
1408
Q0705:In Prokaryotes; does RNA polymerase make all 3 kinds of RNA?
1409
yes
1410
Q0706:What binds to a PROMOTOR site?
1411
1. RNA polymerase;2. transcription factors;(UPSTREAM FROM THE GENE)
1412
Q0707:What binds to an ENHANCER site?
1413
transcription factors
1414
Q0708:What binds to an OPERATOR?
1415
repressors (a repressive operator)
1416
Q0709:Only [;] RNA is transported out of the nucleus
1417
processed
1418
Q0710:The [;] the Km; the higher the affinity.
1419
lower
1420
Q0711:The S phase of the cell cycle involves what?
1421
Synthesis of DNA
1422
Q0712:The G0 phase in the cell cycle is a quiescent [;] phase
1423
G1 phase
1424
Q0713:In the cell cycle; [;] is the shortest phase
1425
mitosis
1426
Q0714:Most cells are in what phase?
1427
Go
1428
Q0715:RER does what 2 things?f
1429
1. synthesis of secretory (exported) proteins;2. N-linked oligosaccharide addition to many proteins
1430
Q0716:What are the major functions of the Golgi?
1431
1. MODIFIES N-oligosaccharides on asparagiNe;2. ADDS Ooligosaccharides to serine and threOnine;3. sulfation of sugars on proteoglycans;4. sulfation of Tyrosine;5. ADDITION of mannose-6-phosphate to lysosomal proteins; which targets the protein to the lysosome.
1432
Q0717:What are the symptoms of I-cell disease?
1433
1. coarse facial features;2. restricted joint movement
1434
Q0718:What are the 3 key features of microtubules?
1435
1. helical;2. alpha + beta tubulin dimers (2 GTP bound each);3. forms flagella; cilia; and mitotic spindles
1436
Q0719:What are 5 drugs that act on microtubules?
1437
1. Mebendazole/thiabendazole;2. Taxol;3. Griseofulvin;4. Vincristine/vinblastine;5. Colchicine
1438
Q0720:Chediak-Higashi syndrome is due to a microtubule polymerization defect; resulting in a DECREASE in [;]
1439
phagocytosis
1440
Q0721:What are the 2 key features of Cilia?
1441
1. 9 + 2 arrangment of microtubules (9 doublets);2. doublets linked by Dynein; an ATPase
1442
Q0722:Kartagener's syndrome is due to a dynein arm defect; resulting in [;] cilia.
1443
immotile cilia
1444
Q0723:What 2 components in the plasma cell membrane can INCREASE the melting temperature?
1445
1. cholestrol;2. long saturated fatty acids
1446
Q0724:Name 5 functions of Phosphatidylcholine:
1447
1. RBCs;2. myelin;3. bile;4. surfactant (DiPalmitoyl Phosphatidyl Choline);5. esterification of cholesterol (LCAT)
1448
Q0725:Ouabain INHIBITS the Na+/K+ pump by binding to what?
1449
K+ site
1450
Q0726:What is the most abundant protein in the human body?
1451
collagen
1452
Q0727:What are the components of Type I collagen?
1453
1. B.one;2. tendon;3. skin;4. dentin;5. fascia;6. cornea;7. latewound repair
1454
Q0728:What are the components of Type II collagen?
1455
1. C.artilage ("Type II: carTWOlage"); hyaline too;2. vitreous body;3. nucleus pulposus
1456
Q0729:What are the components of Type III collagen?
1457
1. R.eticulin;2. skin;3. blood vessels;4. uterus;5. fetal tissue;6. granulation tissue
1458
Q0730:What are the components of Type IV collagen?
1459
1. B.asement membrane;2. basal lamina "Type IV: under the FLOOR (basement membrane)"
1460
Q0731:What is the component of Type X collagen
1461
epiphyseal plate
1462
Q0732:What is the mnemonic for the first four collagen types (I-IV)?
1463
"B.e C.ool; R.ead B.ooks"
1464
Q0733:What is the 1st step in collagen synthesis INSIDE fibroblasts?
1465
collagen alpha chains (PREPROCOLLAGEN) translated on RER--usually Gly-X-Y polypeptide (X and Y are proline; hydroxyproline; or hydroxylysine)
1466
Q0734:What is the 2nd step in collagen synthesis INSIDE fibroblasts?
1467
ER--> hydroxylation of specific proline and lysine residues (requires vitamin C)
1468
Q0735:What is the 3rd step in collagen synthesis INSIDE fibroblasts?
1469
Golgi --> glycosylation of pro-alpha-chain lysine residues and formation of PROCOLLAGEN(triple helix of 3 collagen alpha chains)
1470
Q0736:What is the 4th step in collagen synthesis INSIDE fibroblasts?
1471
PROCOLLAGEN molecules are exocytosed into the extracellular space
1472
Q0737:What is the 5th step in collagen synthesis OUTSIDE fibroblasts?
1473
PROCOLLAGEN peptidases cleave terminal regionals of PROCOLLAGEN; transforming PROCOLLAGEN into insoluble TROPOCOLLAGEN
1474
Q0738:What is the 6th and last step in colagen synthesis OUTSIDE fibroblasts?
1475
staggered TROPOCOLLAGEN molecules are reinforced by covalent lysine-hydroxylysine cross-linkage (by lysyl oxidase) to make COLLAGEN FIBRILS
1476
Q0739:What are the 8 major points concerning Ehlers-Danlos syndrome?
1477
1. faulty collagen synthesis;2. hyper-extensible skin;3. easy bleeding/brusing;4. hypermobile joints;5. berry aneurysms;6. type III collagen (reticulin: blood vessels; skin);7. mitral valve prolapse;8. CAN'T make COLLAGEN FIBRILS from TROPOCOLLAGEN!
1478
Q0740:What are the 9 major points concerning OSTEOGENESIS IMPERFECTA?
1479
1. AUTOSOMAL DOMINANT (UNIQUE);2. faulty collagen synthesis;3. brittle bone disease;4. translucency of CT over choroid (blue sclerae);5. hearing loss: abnormal middle ear bones;6. lack of dentition;7. Type II OI: fatal;8. Indicence of OI: 1/10;000;9. CAN'T make PROCOLLAGEN from PREPROCOLLAGEN
1480
Q0741:What three metabolic processes occur in the mitochondria?
1481
1. B.eta-oxidation;2. A.cetyl-CoA production;3. K.rebs cycle
1482
Q0742:What five metabolic processes occur in the cytoplasm?
1483
1. glycolysis;2. FA synthesis;3. protein synthesis;4. steroid synthesis;5. HMP shunt
1484
Q0743:What 2 metabolic processes occur in BOTH the mitochondria and cytoplasm?
1485
1. H.eme synthesis;2. U.rea cycle;3. G.luconeogenesis;"H.U.G. both the mitochondria and cytoplasm for their metabolism."
1486
Q0744:A deficiency of what enzyme causes MILD galactosemia?
1487
Galactokinase
1488
Q0745:A deficiency of what enzyme causes SEVERE galactosemia?
1489
1490
Q0746:Galactose-1-phosphate --> Glucose-1-phosphate by what enzyme?
1491
1492
Q0747:A deficiency of what enzyme causes Von Gierke's disease?
1493
Glucose-6-phosphatase
1494
Q0748:Glucose-6-phosphate --> 6-phosphogluconolactone by what enzyme?
1495
Glucose-6-phosphate dehydrogenase (G6PD)
1496
Q0749:Hemolytic anemia is caused by a deficiency of what enzyme?
1497
G6PD
1498
Q0750:Ribulose-5-phosphate --> fructose-6-phosphate by what enzyme?
1499
transketolase
1500
Q0751:A deficiency of what enzyme causes ESSENTIAL fructosuria?
1501
fructokinase
1502
Q0752:A deficiency of what enzyme causes fructose INTOLERANCE?
1503
Aldolase B
1504
Q0753:F1P --> DHAP + Glyceraldehyde. What enzyme?
1505
aldolase B
1506
Q0754:PEP --> pyruvate. What enzyme?
1507
pyruvate kinase
1508
Q0755:Pyruvate --> Acetyl-CoA. What enzyme?
1509
pyruvate dehydrogenase
1510
Q0756:Acetyl-CoA --> Malonyl-CoA. What cofactor?
1511
biotin to tranfer CO2
1512
Q0757:HMG CoA --> mevalonate. What enzyme?
1513
HMG-CoA reductase
1514
Q0758:pyruvate --> OAA. What enzyme?
1515
pyruvate carboxylase
1516
Q0759:OAA --> PEP. What enzyme?
1517
PEP carboxykinase
1518
Q0760:Acetyl-CoA + OAA --> citrate. What enzyme?
1519
citrate synthase
1520
Q0761:alpha-KG --> Succinyl-CoA. What enzyme?
1521
alpha-ketoglutarate dehydrogenase
1522
Q0762:Ornithine + Carbamoyl phosphate --> citrulline. What enzyme?
1523
ornithine transcarbamylase
1524
Q0763:Aerobic metabolism of glucose --> 38 ATP via [;]
1525
malate shuttle
1526
Q0764:Aerobic metabolism of glucose --> 36 ATP via [;]
1527
G3P shuttle
1528
Q0765:What are 2 activated ACYL carriers?
1529
1. coenzyme A;2. lipoamide
1530
Q0766:What is an activated CO2 carrier?
1531
biotin
1532
Q0767:What is an activated 1-carbon unit carrier?
1533
tetrahydrofolate
1534
Q0768:What is an activated carrier of aldehydes?
1535
TPP
1536
Q0769:What is an activated carrier of choline?
1537
CDP-choline
1538
Q0770:ATP + methionine --> SAM. using what cofactor?
1539
B12
1540
Q0771:NADPH used in 3 processes:
1541
1. anabolic processes;2. respiratory burst;3. p-450
1542
Q0772:What enzymes involve NADPH in respiratory burst?
1543
1. NADPH oxidase;2. glutathione reductase;3. Glucose-6Phosphate dehydrogenase
1544
Q0773:Glucose -> G6P; an irreversible regulatory step in glycolysis is catalyzed by which enyzme?
1545
glucokinase/hexokinase
1546
Q0774:Fructose 6-phosphate -> F1;6BP; an irreversible regulatory step in glycolysis is catalyzed by which enyzme?
1547
Phosphofructokinase (PFK)
1548
Q0775:Phosphoenolpyruvate (PEP)->pyruvate; an irreversible regulatory step in glycolysis is catalyzed by which enyzme?
1549
pyruvate kinase
1550
Q0776:Acetyl CoA --> Citrate; an irreversible regulatory step in the TCA cycle is catalyzed by which enyzme?
1551
citrate synthase
1552
Q0777:a-ketoglutarate -> succinate; an irreversible regulatory step in the TCA cycle is catalyzed by which enyzme?
1553
a-ketoglutarate dehydrogenase
1554
Q0778:How many ATP are produced from one glucose molecule in anaerobic glycolysis?
1555
2 ATP produced
1556
Q0779:How many ATP are produced from one glucose molecule in aerobic metabolism?
1557
38ATP from malate shuttle;36 ATP from Glucose 3 phosphate shuttle
1558
Q0780:What is the product of the hexose monophospate shunt (HMP)?
1559
NADPH used in anabolic processes (steroid and fatty acid synthesis) and ribose 5-phosphate for nucleotide synthesis
1560
Q0781:What molecules are universal electron acceptors?
1561
Nicotinamides (NAD; NADP);Flavin nucleotides (FAD)
1562
Q0782:Where is hexokinase found?
1563
ubiquitous
1564
Q0783:What are the kinetic characteristics of hexokinase in relation to glucose?
1565
high affinity; low capacity
1566
Q0784:What product inhibits hexokinase?
1567
Glucose 6-Phosphate
1568
Q0785:Where does one find glucokinase?
1569
in the liver
1570
Q0786:What are the kinetic characteristics of glucokinase in relation to glucose?
1571
low affinity; high capacity
1572
Q0787:Where does glycolysis occur in the cell?
1573
Cytoplasm
1574
Q0788:Which enzyme is activated in the fasting state converting fructose-6-phosphate to fructose 2;6bisphosphate?
1575
PFK2
1576
Q0789:Which enzyme is activated in the fed state converting fructose-2;6-bisphosphatase to fructose 6-phosphatate?
1577
fructose bisphosphatate-2
1578
Q0790:What molecule is the most potent activator of phosphofructokinase; converting fructose-6-phosphate to fructose 1;6-phosphate
1579
Fructose 2;6 BP
1580
Q0791:A deficiency of which glycolytic enzyme is associated with hemolytic anemia?
1581
pyruvate kinase;G6PDH is not part of glycolysis; it is part of the HMP shunt
1582
Q0792:What are the only two purely ketogenic amino acids?
1583
Lysine and Leucine
1584
Q0793:What factors increase the activation of the pyruvate dehydrogenase complex?
1585
Low ATP/ADP ratio (exercise);high NAD/NADH ratio;high IC [Ca]
1586
Q0794:How many ATP equivalents are needed to generate glucose from pyruvate?
1587
6 ATP equivalents
1588
Q0795:What are the 4 fates for pyruvate at the end of glycolysis?
1589
1. Alanine;2. oxaloacetate;3. Acetyl CoA;4. Lactate
1590
Q0796:What is the function of the Cori cycle?
1591
transfers excess reducing equivalents from RBCs and muscle to the liver; shifts the metabolic burden to the liver
1592
Q0797:What are the steps in the TCA cycle?
1593
Citrate > isocitrate > a-ketoglutarate > succinyl CoA > succinate > fumate > malate > OAA
1594
Q0798:What cofactors are required for the a-ketoglutarate dehydrogenase complex?
1595
B1; B2; B3; B5; lipoic acid
1596
Q0799:Which complexes bring protons across the inner mitochondrial membrane?
1597
Complexes I; III; IV
1598
Q0800:In oxidative phosphorylation; how many ATP are produced from 1 NADH?
1599
3 ATP
1600
Q0801:In oxidative phosphorylation; how many ATP are produced from 1 FADH2?
1601
2 ATP
1602
Q0802:What are the three categories of oxidative phosphorylation poisons?
1603
1. e- transport inhibitors;2. ATPase inhibitors;3. Uncoupling agents
1604
Q0803:What are the 4 irreversible enzymes of gluconeogenesis and where are they located?
1605
1. Pyruvate carboxylase (mitochondria);2. PEP carboxykinase (PEPCK; cytosol);3. Fructose 1;6-bisphosphatase (cytosol);4. Glucose 6-phophotase (ER)
1606
Q0804:What tissues contain the irreversible enzymes of gluconeogenesis?
1607
liver; kidney; intestinal epithelium;muscle does not contain G6Ptase and cannot participate in gluconeogenesis
1608
Q0805:Deficiency of key gluconeogenic enzymes causes what symptoms?
1609
hypoglycemia
1610
Q0806:The HMP shunt occurs in what parts of the body?
1611
lactating mammary glands; liver; adrenal cortex
1612
Q0807:In what part of the cell does the HMP shunt occur?
1613
cytoplasm
1614
Q0808:What enzyme is required for the irreversible reaction of the HMP shunt producing NADPH?
1615
1616
Q0809:What is the product of the reversible reaction of HMP shunt?
1617
Ribose-5-phosphate (for nucleotide synthesis) and Glyceraldehyde 3-phosphate; fructose 6phosphate(intermediate of gyloslysis)
1618
Q0810:GLUT2 receptors are found in which cells?
1619
b-cells in the pancreas; Liver; kidney
1620
Q0811:GLUT4 receptors are found in which cells?
1621
Muscles and Fat
1622
Q0812:What is the general function of insulin?
1623
-moves glucose into cells;-inhibits glucagon secretion from acells in pancreas
1624
Q0813:Which organs do not require insulin for glucose uptake?
1625
Brain;RBCs;Intestine;Cornea;Kidney;Liver
1626
Q0814:What are the anabolic effects of insulin?
1627
increased glucose transport;increased glycogen synthesis and storage;increased triglyceride synthesis and storage;increased Na retention;increased protein synthesis
1628
Q0815:What is the role of glycogen in skeletal muscle?
1629
rapidly metabolize glucose during exercise
1630
Q0816:What is the role of glycogen in hepatocytes?
1631
storage depot to maintain blood sugar at appropriate levels.
1632
Q0817:What are the main reactions of glycogenesis/degradation?
1633
G6P > G1P > UDP-glucose > branched version > limit dextran > debranched glycogen
1634
Q0818:What are the 4 glycogen storage diseases?
1635
Von Gierke's Dz (Type I);Pompe's Dz (Type II);Cori's Dz (Type III);McArdle's Dz (Type V)
1636
Q0819:What are the findings of Von Gierke's Dz?
1637
severe fasting hypoglycemia; high glycogen in the liver; increased blood lactate; hepatomegaly
1638
Q0820:What is the deficient enzyme in Von Gierke's Dz?
1639
Glucose-6-phosphate
1640
Q0821:What are the findings of Pompe's dz?
1641
cardiomegaly and systemic findings leading to early death
1642
Q0822:What is the deficient enzyme in Pompe's Dz?
1643
Lysosomal a-1;4-glucosidase (acid maltase)
1644
Q0823:What are the findings of Cori's disease?
1645
Milder form of Van Gierke's (Type I) with normal blood lactate levels
1646
Q0824:What is the deficient enzyme in Cori's Dz?
1647
debranching enzyme (a-1;6-glucosidase
1648
Q0825:What are the findings of McArdle's dz (Type V)?
1649
increased glycogen in muscle but cannot break it down -> painful cramps and myoglobinuria with strenuous exercise
1650
Q0826:What is the deficient enzyme in McArdle's Dz?
1651
skeletal muscle phosphorylase
1652
Q0827:A full-term neonate of uneventful delivery becomes mentally retarded and hyperactive and has a musty odor. What is the dx?
1653
PKU
1654
Q0828:A stressed executive comes home from work; consumes 7 or 8 martinis in rapid succession before dinner; and becomes hypoglycemic. What is the mechanism?
1655
Increase in NADH prevents gluconeogenesis by shunting pyruvate and oxaloacetate to lactate and malate
1656
Q0829:A 2 year-old girl has an increase in abdominal girth; failure to thrive; and skin and hair depigmentation. What is the dx?
1657
Kwashiorkor
1658
Q0830:Alcoholic develops a rash; diarrhea; and altered mental status. What is the Vitamin Deficiency?
1659
Vitamin B3 (pellagra)
1660
Q0831:A 51-year-old man has black spots in his sclera and has noted that his urine turns black upon standing. What is his dx?
1661
Alkaptonuria
1662
Q0832:A 25-year-old male complains of severe chest pain and has xanthomas of his Achilles tendons. What is the dz and where is the defect?
1663
Familial hypercholesterolemia; LDL receptor
1664
Q0833:A woman complains of intense muscle cramps and darkened urine after exercise. What is the dx?
1665
McArdle's Dz
1666
Q0834:Two parents with albinismhave a sone who is normal. Why is the son not affected?
1667
Locus heterogeneity
1668
Q0835:A 40-year-old man has chronic pancreatitis with pancreatic insufficiency. What vitamins are likely deficient?
1669
A;D;E;K
1670
Q0836:What are the fat soluble vitamins?
1671
A;D;E;K
1672
Q0837:What two organs contribute most to the absorption of fat-soluble vitamins?
1673
gut (ileum) and pancreas
1674
Q0838:What dzs can cause fat soluble vitamin deficiencies?
1675
Malabsorption syndromes such as CF; celiac sprue; miner oil intake can also cause deficiencies
1676
Q0839:Which vitamins are water soluble?
1677
B1; B2;B3;B5;B6;B12;C;Biotin;Folate
1678
Q0840:Which water soluble vitamin does NOT wash out of the body easily and why?
1679
Vit B12 because it is stored in the liver
1680
Q0841:What are some common symptoms of B-complex deficiencies?
1681
dermatitis; glossitis; and diarrhea
1682
Q0842:What is another name for Vitamin A?
1683
Retinol
1684
Q0843:A deficiency in Vitamin A causes what symptoms?
1685
night blindness; dry skin
1686
Q0844:What is the function of Vitamin A?
1687
constituent of visual pigments
1688
Q0845:Excess of Vitamin A causes what symptoms?
1689
arthralgias; fatigue; headaches; skin changes; sore throat; alopecia
1690
Q0846:What is another name for Vitamin B1?
1691
thiamine
1692
Q0847:A deficiency in Vitamin B1 causes what symptoms?
1693
BeriBeri and Wernike-Korsakoff syndrome
1694
Q0848:What is the function of Vitamin B1?
1695
a cofactor for oxidative decarboxylation of a-keto acids and a cofactor in the HMP shunt
1696
1697
riboflavin
1698
1699
angular stomatitis; Cheilosis; corneal vascularization
1700
1701
Cofactor for oxidation and reduction (e.g; FADH2)
1702
1703
niacin
1704
1705
Pellagra: diarrhea; dermatitis; dementia
1706
1707
Constituent of NAD; NADP (redox rxns); derived from tryptophan
1708
1709
pantothenate
1710
1711
dermatitis; enteritis; alopecia; adrenal insufficiency
1712
1713
Constituent of CoA and component of FA synthase
1714
Q0858:A deficiency in Vitamin C causes what symptoms?
1715
Scurvy - swollen gums; bruising; anemia; poor wound healing
1716
Q0859:What is the function of Vitamin C?
1717
needed for the hydroxylation of proline and lysine in collagen synthesis; keeps Fe+2 in a reduced state increaseinf Fe absorption; cofactor for DA->NE
1718
Q0860:A deficiency in Vitamin A causes what symptoms?
1719
1720
Q0861:What is the function of Vitamin A?
1721
constituent of visual pigments
1722
Q0862:Excess of Vitamin A causes what symptoms?
1723
arthralgias; fatigue; headaches; skin changes; sore throat; alopecia
1724
1725
thiamine
1726
1727
a cofactor for oxidative decarboxylation of a-keto acids and a cofactor in the HMP shunt
1728
1729
riboflavin
1730
1731
angular stomatitis; Cheilosis; corneal vascularization
1732
1733
Cofactor for oxidation and reduction (e.g; FADH2)
1734
1735
niacin
1736
1737
Pellagra: diarrhea; dermatitis; dementia
1738
1739
Constituent of NAD; NADP (redox rxns); derived from tryptophan
1740
1741
pantothenate
1742
1743
dermatitis; enteritis; alopecia; adrenal insufficiency
1744
1745
Constituent of CoA and component of FA synthase
1746
1747
pyridoxine
1748
1749
convulsions; hyperirritability; peripheral neuropathy
1750
1751
converted to pyridoxal phosphate; a cofactor in transanimation; decarboxylation and heme synthesis
1752
1753
cobalamin
1754
1755
macrocytic; megaloblastic anemia; neurologic symptoms; glossitis
1756
1757
cofactor in homocysteine methylation and methylmalonyl CoA handlining
1758
Q0880:B12 is found in what types of foods?
1759
Only animal products
1760
Q0881:What test is used to detect a B12 deficiency?
1761
Schilling Test
1762
Q0882:What are the three main causes of a B12 deficiency?
1763
Malabsorption; lack of intrinsic factor (pernicious anemia) or absence of terminal ileum (chron's dz)
1764
Q0883:A deficiency in folic acid causes what symptoms?
1765
macrocytic megaloblastic anemia w/o neuro symptoms (unlike B12)
1766
Q0884:What is the function of Folic acid?
1767
coenzyme for 1-carbon transfers (methylation rxns); needed for the synthesis of nitrogenous bases in DNA and RNA
1768
Q0885:Supplemental folic acid is given in pregnancy to prevent what defects?
1769
neural tube
1770
Q0886:What is the folic acid precursor in bacteria?
1771
PABA
1772
Q0887:A deficiency in biotin causes what symptoms?
1773
dermatitis; enteritis
1774
Q0888:What is the function of biotin?
1775
cofactor for carboxylation rxns: pyruvate -> oxaloacetate; Acetyl CoA -> malonyl CoA; Proprionyl CoA -> methylmalonyl CoA
1776
Q0889:What is another name for Vitamin C?
1777
Ascorbic acid
1778
Q0890:A deficiency in Vitamin C causes what symptoms?
1779
Scurvy - swollen gums; bruising; anemia; poor wound healing
1780
Q0891:What is the function of Vitamin C?
1781
needed for the hydroxylation of proline and lysine in collagen synthesis; keeps Fe+2 in a reduced state increaseinf Fe absorption; cofactor for DA->NE
1782
Q0892:A deficiency in Vitamin D causes what symptoms?
1783
Rickets in children and osteomalacia in adults (improper bone mineralization); hypocalcemic tetany
1784
Q0893:What is the function of Vitamin D?
1785
Increased absorption of Ca and P in the gut
1786
Q0894:What is the mechanism by which Vitamin D deficiency causes tetany?
1787
less D -> less Ca -> lowering the membrane potential of a cell -> making it easier to get to threshold for AP
1788
Q0895:Excess of Vitamin D causes what symptoms?
1789
Hypercalcemia; stupor; lossof appetite
1790
Q0896:A deficiency in Vitamin E causes what symptoms?
1791
Increased fragility of erythrocytes; neurodysfunction
1792
Q0897:What is the function of Vitamin E?
1793
Antioxidant: protects erythrocytes from hemolysis
1794
Q0898:A deficiency in Vitamin K causes what symptoms?
1795
Neonatal hemorrhage with increased PT and PTT; but normal bleeding time (neonates unable to synthesize Vit K)
1796
Q0899:What is the function of Vitamin K?
1797
Catalyzes gamma-carboxylation of glutamic acid residues on various proteins concerned with clotting; synthesized by intestinal flora
1798
Q0900:What can cause a Vitamin K deficiency?
1799
braod spectrum antibiotics (killing intestinal flora)
1800
Q0901:What are the Vitamin K dependent clotting factors?
1801
II; VII; IX; X; protein C and S
1802
Q0902:Which drug is a Vitamin K antagonist?
1803
Warfarin
1804
Q0903:A deficiency in zinc causes what symptoms?
1805
delayed wound healing; hypogonadism; decreased adult hair
1806
Q0904:Outline the pathway of ethanol metabolism.
1807
ethanol ->[alcohol dehydrogenase] -> Acetaldehyde >[acetaldehyde dehydrogenase]-> acetate
1808
Q0905:What is the limiting reagent in the ethanol metabolism pathway?
1809
NAD+
1810
Q0906:What are the pharmacokinetics of alcohol dehydrogenase?
1811
zero-order
1812
Q0907:Which drug inhibits acetaldehyde dehydrogenase allowing for the accumulation of acetaldehyde and increasing hangover symptoms?
1813
Disulfiram (anabuse)
1814
Q0908:Describe the mechainsm for ethanol hypoglycemia in chronic alcoholics.
1815
Ethanol metabolism -> increased NADH/NAD+ ratio in liver -> pyruvate diverts to lactate and OAA diverts to malate -> inhibition of gluconeogenesis
1816
Q0909:Kwashiorkor is malnutrition resulting from what deficiency?
1817
protein
1818
Q0910:What does a pt with Kwashiorkor look like?
1819
small child with a swollen belly
1820
Q0911:Marasmus is a malnutrition syndrome resulting from what deficiency?
1821
calories/energy
1822
Q0912:What does a pt with marasmus look like?
1823
small child with tissue and muscle wasting
1824
Q0913:Describe the structure of chromatin.
1825
(-)charged DNA loops choice around nucleosome core to form a nucleosome bead; H1 ties the nucleosomes together in a string
1826
Q0914:Which is the only histone that is not in the nucleosome core?
1827
H1
1828
Q0915:Which form of chromatin is transcriptionally inactive? Active?
1829
Inactive: heterochromatin Active: Euchromatin
1830
Q0916:Which amino acids are necessary for purine synthesis?
1831
Glycine; Aspartate; Glutamine
1832
Q0917:Which nucleotide bonds are stronger and what is the consequence of this?
1833
G-C bonds are stronger (3 H-bonds) resulting in a higher melting temperature
1834
Q0918:In regards to nucleotides; what is transition?
1835
substitution of a purine for a purine or pyrimidine for pyrimidine
1836
Q0919:In regards to nucleotides; what is transversion?
1837
substituting purine for pyrimidine or vice versa
1838
Q0920:What are the four main features of the genetic code?
1839
unambiguous; degenerate; nonoverlapping; universal
1840
Q0921:What does it mean to say that the genetic code is degenerate?
1841
more than one codon may code for the same amino acid
1842
Q0922:What is the mechanism of base excision repair?
1843
Glycosylases remove damaged bases; endonuclease cuts DNA at apyrimidinic site; sugar is removed; gap is filled and resealed
1844
Q0923:What is the mechanism of mismatch repair?
1845
unmethylated; newly synthesized string is recognized; mismatched nucleotides are removed; gap is filled and resealed
1846
Q0924:Which DNA repair mechanism is mutated in hereditary nonpolyposis colon cancer?
1847
mismatch repair
1848
Q0925:What is the mechanism of nonhomologous end joining?
1849
bringing together two ends of DNA fragments
1850
Q0926:What is the direction of DNA/RNA/protein synthesis?
1851
5' -> 3'
1852
Q0927:How are amino acids joined?
1853
N to C
1854
Q0928:What are the three types of RNA?
1855
mRNA; tRNA; rRNA
1856
Q0929:Which type of RNA is the most abundant?
1857
rRNA
1858
Q0930:Which type of RNA is the largest?
1859
mRNA
1860
Q0931:Which type of RNA is the smallest?
1861
tRNA
1862
Q0932:What is the function of RNA pol-I?
1863
makes rRNA
1864
Q0933:What is the function of RNA pol-II?
1865
Makes mRNA
1866
Q0934:What is the function of RNA pol-III?
1867
makes tRNA
1868
Q0935:What substance; found in death cap mushrooms; inhibits RNA pol-II?
1869
a-amanitin
1870
Q0936:Which codon codes for methionine; thus initiating mRNA?
1871
AUG
1872
Q0937:What are the three stop codons?
1873
UAA; UAG; UGA
1874
Q0938:Which phase of the cell cycle is the shortest?
1875
Mitosis
1876
Q0939:In which phase is new DNA synthesized?
1877
S phase
1878
Q0940:What type of cells remain in Go and are regenerated from stem cells?
1879
Permanent cells such as neurons; skeletal and cardiac muscle; RBCs
1880
Q0941:What type of cells enter G1 from Go when stimulated?
1881
Stable cells such as lymphocytes and hepatocytes
1882
Q0942:What type of cells never go to Go and divide rapidly with a short G1?
1883
Labile cells such as bone marrow; gut epithelium; skin; and hair follicles
1884
Q0943:What is the function of the rough ER (RER)?
1885
synthesis of secretory (exported) proteins and N-linked oligosaccharide addition to many proteins
1886
Q0944:What type of cells are rich in RER?
1887
Mucus-secreting goblet cells of the small intestine and antibody-secreting plasma cells
1888
Q0945:What is the function of Nissl bodies in neurons?
1889
synthesize enzymes (e.g; ChAT) and peptide neurotransmitters
1890
Q0946:What is the function of the smooth ER (SER)?
1891
site of steroid synthesis and detoxification of drugs and poisons
1892
Q0947:What type of cells are rich in SER?
1893
liver hepatocytes and steroid hormone-producing cells of the adrenal cortex
1894
Q0948:What are the 6 main functions of the Golgi apparatus?
1895
taking protwins and lipids from the ER to the PM/lysosomes/secretory vesicles; 2. Modifies N-oligosac. On asparagine; 3. adds O-oligosac to Ser and Thr; 4. addd mannose-6P to lysosomal proteins (targeting to lysosome); 5. prtoeoglycan assembly; 6. sulfation of sugar on proteoglycans
1896
Q0949:What is the pathophys of I-cell disease and what are the consequences?
1897
mannose-6P cannot be added to the lysosomal proteins so enzymes are secreted out of the cell instead of being targeted to the lysosome
1898
Q0950:What are the characteristics of I-cell disease?
1899
coarse facial features; clouded corneas; restricted joint movement; high plasma levels of lysosomal enzymes. Can be fatal in childhood
1900
Q0951:What are the three main cvesicular trafficking proteins and where do they go?
1901
1. COP-I: retrograde; Golgi -> ER; 2. COP-II anterograde; RER -> cis-Golgi; 3.Clathrin: trans-Golgi->lysosomes; plasma membrane->endosomes (receptor mediated endocytosis)
1902
Q0952:In what cellular structures would one find microtubules?
1903
flagella; cilia; mitotic spindles
1904
Q0953:What are the four main drugs that act on microtubules and for what dz?
1905
1. Mebendazole/thiabendazole (antihelminthic); 2. Taxol (antibreast ca); 3. Grisofulvin (antifungal); 4. Vineristine/vinblastine (anti-ca); 5. Colchicine (anti-gout)
1906
Q0954:What syndrome is caused by a defect in microtubule polymerization resulting in decreased phagocytosis?
1907
Chediak-Higashi
1908
Q0955:Describe the structure of cilia.
1909
9+2 arrangement of microtubules; doublets linked by dynein ATPase and allows for the bending of cilia
1910
Q0956:Which protein is responsible for retrograde motion of cilia? Anterograde?
1911
retrograde = dynein; anterograde = kinesin
1912
Q0957:What is Kartagener's syndrome?
1913
immobile cilia due to a dynein arm defect
1914
Q0958:What are the symptoms of Kartagener's syndrome?
1915
infertility in both males and females; bronchiectasis; recurrent sinitus (any place where cilia are moving things around)
1916
Q0959:What are the two most abundant components of the plasma membrane?
1917
cholesterol and phospholipids
1918
Q0960:What is the major component of RBC membranes; myelin; bile and surfactant?
1919
phosphatidylcholine (lecithin)
1920
Q0961:What is the NA/ K exchange ratio in a Na/K ATPase pump?
1921
3 Na out:2 K in
1922
Q0962:Explain when in the exchange is the Na/K ATPase pump phosphorylated/dephos?
1923
Phosphorylated to let Na out (ATP->ADP) and dephosphorylated to let K in
1924
Q0963:What is the most abundant protein in the human body?
1925
collagen
1926
Q0964:90% of all collagen is of what type?
1927
Type I
1928
Q0965:Type I collagen provides support for which organs/functions?
1929
Bone; Skin; Tendon; dentin; fascia; cornea; late wound repair
1930
Q0966:Type II collagen provides support for which organs/functions?
1931
Cartilage; vitreous body; nucleus pulposus
1932
Q0967:Type III collagen provides support for which organs/functions?
1933
Reticulin: skin; blood vessels; uterus; fetal tissue; granulation tissue
1934
Q0968:Type IV collagen provides support for which organs/functions?
1935
Basement membrane or basa lamina
1936
Q0969:What are the four phases of collagen synthesis in the fibroblasts and where do they take place?
1937
1. synthesis (RER); 2. hydroxylation (ER); 3. glycosylation (Golgi); 4. exocytosis as procollagen
1938
Q0970:What are the two phases of collagen synthesis that occur outside of the fibroblasts?
1939
1. proteolytic processing (procollagen ->tropocollagen); 2. cross-linking by covalent Lys-hydroxylysine = collagen fibrils
1940
Q0971:What stage of collagen synthesis requires Vitamin C?
1941
hydroxylation in the ER
1942
Q0972:What are the three signs of Ehlers-Danlos syndrome?
1943
1. hyperextensible skin; 2. tendency to bleed; 3. hypermobile joints (faulty collagen synthesis)
1944
Q0973:What type of collagen is most affected by EhlersDanlo syndrome?
1945
Type III (blood vessel instability)
1946
Q0974:What is the most common form of osteogenesis imperfecta?
1947
AD inheritance with abnl Type I synthesis
1948
Q0975:What are the key clinical features of osteogenesis imperfecta?
1949
1. multiple fractures from minimal trauma (brittle bone); 2. blue sclerae (translucency of connective tissue over the choroid); 3. hearing loss; 4. dental imperfections
1950
Q0976:What may osteogenesis imperfecta be confused with upon examination?
1951
child abuse
1952
Q0977:For the following cell type; state the immunohistochemical stain used to see it: connective tissue
1953
Vimentin
1954
Q0978:For the following cell type; state the immunohistochemical stain used to see it: Muscle
1955
Desmin
1956
Q0979:For the following cell type; state the immunohistochemical stain used to see it: Epithelial cells
1957
cytokeratin
1958
Q0980:For the following cell type; state the immunohistochemical stain used to see it: Neuroglia
1959
glial fibrillary acid proteins (GFAP)
1960
Q0981:For the following cell type; state the immunohistochemical stain used to see it: neurons
1961
neurofilaments
1962
Q0982:In what structures does one find elastin?
1963
lungs; large arteries; elastic ligaments
1964
Q0983:Elastin is rich in which two amino acids?
1965
Proline and lysine
1966
Q0984:Marfan syndrome is caused by a defect in which component of elastin?
1967
fibrillin
1968
Q0985:Elastase is inhibited in which disease? (Hint: it also causes early-onset emphysema)
1969
a1-antitrypsin deficiency
1970
Q0986:What syndrome is caused by a defect in microtubule polymerization resulting in decreased phagocytosis?
1971
Chediak-Higashi
1972
Q0987:Fructose intolerance is a hereditary deficiency of what enzyme?
1973
Aldolase B
1974
Q0988:What is the pathophys of fructose intolerance?
1975
fructose-1-P accumulates causing decreased available phosphate resulting in inhibition of glycogenolysis and gluconeogenesis
1976
Q0989:What is the tx for fructose intolerance?
1977
decrease intake of both fructose and sucrose (glucose and fructose)
1978
Q0990:Essential fructosuria is a defect in which enzyme?
1979
fructokinase
1980
Q0991:Galactosemia results from the absence in what enzyme?
1981
galactose-1-phosphate uridyltransferase
1982
Q0992:What is the pattern of inheritance in galactosemia?
1983
AR
1984
Q0993:What are the symptoms of galactosemia?
1985
cataracts; hepatosplenomegaly; mental retardation
1986
Q0994:Lactase deficiency is a hereditary lactose intolerance due to a loss of what type of enzyme?
1987
Brush border enzyme
1988
Q0995:What demographic is most susceptible to lactase deficiency and what are the sx?
1989
blacks; Asians; bloating; cramps; osmotic diarrhea
1990
1991
Phe; Val; Trp; Thr; Ile; Met; His; Arg; Leu; Lys
1992
Q0997:what is the pathophys of hyperammonemia?
1993
excess NH4 depletes a-ketoglutarate; leading to inhibition of TCA cycle
1994
Q0998:What are the sx of ammonia intoxication?
1995
tremor; slurring of speech; somnolence; vomiting; cerebral edema; blurring vision
1996
Q0999:What are the three main derivatives of phenylalanine?
1997
Dopamine; NE; Epi
1998
Q1000:What are the three main derivatives of tryptophan?
1999
Niacin; serotonin; melatonin
2000
Q1001:What causes the musty odor of PKU?
2001
disorder of excess aromatic amino acids
2002
Q1002:Variable inheritance of albinism is due to what genetic mechanism?
2003
locus heterozygosity
2004
Q1003:Albinism is a congential deficiency one of which two items?
2005
1. Tyrosine (auto. Recess.) or 2. defective tyrosine transporters
2006
Q1004:All forms of homocystinuria have wha inheritance pattern?
2007
autosomal recessive
2008
Q1005:What are the sx of homocystinuria?
2009
mental retardation; osteoporosis; tall stature; kyphosis; lens subluxation; atherosclerosis (stroke and MI)
2010
Q1006:The conversion of methionine to cysteine is dependent on which two vitamins?
2011
B6 (homocysteine to cystothionine) and B12 (homocysteine back to Met)
2012
Q1007:Maple syrup urine disease is due to what defect?
2013
Blocked degradation of branced amino acid (Ile; Val; Leu) due to decreased a-ketoacid dehydrogenase
2014
Q1008:What are the sx of maple syrup urine disease?
2015
CNS defecs; mental retardation and death
2016
Q1009:Adenosine deanimase deficiency can cause what other major immunologic complication?
2017
SCID
2018
Q1010:For the following lysosomal storage dz state (1) main findings; (2) deficient enzyme; (3)accumulated substrate and (4) inheritance pattern: Fabry's Dz
2019
1. peripheral neuropathy of hands/feet; CV/renal dz;2. agalactosidase A;3. ceramide trihexoside;4. XR
2020
Q1011:For the following lysosomal storage dz state (1) main findings; (2) deficient enzyme; (3)accumulated substrate and (4) inheritance pattern: Gaucher's Dz
2021
1. hepatosplenomegally; aseptic necrosis of femur; bone crises; Gaucher cells (macrophages);2. B-glucocerebrosidase;3. glucocerebroside;4. AR;Most common lysosomal storage dz
2022
Q1012:For the following lysosomal storage dz state (1) main findings; (2) deficient enzyme; (3)accumulated substrate and (4) inheritance pattern: Neimann-Pick
2023
1. progressive neurodegeneration; hepatosplenomegally; cherry red spot (on macula);2. Sphingomyelinase;3. Shingomyelin;4. AR
2024
Q1013:For the following lysosomal storage dz state (1) main findings; (2) deficient enzyme; (3)accumulated substrate and (4) inheritance pattern: Tay-Sachs
2025
1. progressive neurodegeneration; developmental delay; lysozymes with onion skin;2. Hexosaminidase A;3. GM2 ganglioside;4. AR
2026
Q1014:For the following lysosomal storage dz state (1) main findings; (2) deficient enzyme; (3)accumulated substrate and (4) inheritance pattern: Krabbe's dz
2027
1. peripheral neuropathy; developmental delay; optic atrophy;2. B-galactosidase;3. Galactocerebroside;4. AR
2028
Q1015:For the following lysosomal storage dz state (1) main findings; (2) deficient enzyme; (3)accumulated substrate and (4) inheritance pattern: Metachromic leukodystrophy
2029
1. central and peripheral demyelination with ataxia and dementia;2. Arylsulfatase A;3. Cerebroside sulfate;4. AR
2030
Q1016:In fatty acid synthesis; the conversion of Acetyl-CoA to Malonyl CoA requires what cofactor?
2031
Biotin
2032
Q1017:In fatty acid synthesis; what mechanism carries acetyl CoA across the inner mitochondril membrane into the cytoplasm?
2033
Citrate shuttle
2034
Q1018:In fatty acid degradation; what mechanism carries acyl CoA across the inner mitochondrial membrane into the mitochondria?
2035
carnitine shuttle
2036
Q1019:What is the rate limiting step in fatty acid degradation?
2037
Carnitine shuttle
2038
Q1020:Under what physiological conditions will one see ketone bodies?
2039
DKA or prolonged starvation
2040
Q1021:The rate limiting step in cholesterol synthesis is catalyzed by which enzyme?
2041
HMG-CoA reductase
2042
Q1022:What is the classification of the drug Lovastatin?
2043
HMG-CoA reductase inhibitor
2044
Q1023:What are the two essential fatty acids?
2045
Linoeic acid and linolenic acid
2046
Q1024:What is the function of pancreatic lipase?
2047
degradation of TG in sm intestine
2048
Q1025:What is the function of lipoprotein lipase?
2049
degradation of TG circulating in chylomicrons and VLDLs
2050
Q1026:What is the function of Hepatic TG lipase?
2051
degradation of TG remaining in IDL
2052
Q1027:What is the function of hormone-sensitive lipase?
2053
Degradation of TG stored in adipocytes
2054
Q1028:What is the funtion of lecithin-cholesterol acyltransferase (LCAT)?
2055
catalyzes the esterification of cholesterol
2056
Q1029:what is the function of cholesterol ester transfer protein (CETP)?
2057
mediated the transfer of cholesterol esters to other lipoprotein particles
2058
Q1030:What is the role of apolipoprotein A-I?
2059
activates LCAT
2060
Q1031:What is the role of apolipoprotein B-100?
2061
binds to LDL receptor; mediates VLDL secretion
2062
Q1032:What is the role of apolipoprotein C-II?
2063
cofactor for lipoprotein lipase
2064
Q1033:What is the role of apolipoprotein B-48?
2065
mediates chylomicrom secretion
2066
Q1034:What is the role of apolipoprotein E?
2067
Mediates remnant uptake (Extra uptake)
2068
Q1035:What is the function of the following lipoprotein: Chylomicron
2069
delivers dietary TGs to peripheral tissues and cholesterol to the liver
2070
Q1036:What apo's are associated with chylomicrons?
2071
B-48; A;C; and E
2072
Q1037:What is the function of the following lipoprotein: VLDL
2073
delivers hepatic TGs to peripheral tissues
2074
Q1038:what apos are associated with VLDL?
2075
B-100; C-II and E
2076
Q1039:What is the function of the following lipoprotein: IDL
2077
Delivers TGs and cholesterol to the liver to be degraded to LDL
2078
Q1040:What apos are associated with IDL?
2079
B-100 and E
2080
Q1041:What is the function of the following lipoprotein: LDL
2081
delivers hepatic cholesterol to peripheral tissues
2082
Q1042:What apos are associated with LDL?
2083
B-100
2084
Q1043:What is the function of the following lipoprotein: HDL
2085
mediates centripital transport of cholesterol (periphery to liver); repository for apoC and apoE
2086
Q1044:Hypercholesterolemia has which Family type? what is increased?
2087
Type IIa;Increased LDL
2088
Q1045:Combined hypercholesterolemia has which familial type? what is increased?
2089
Type IIb;LDL; VLDL both increased
2090
Q1046:Hypertriglyceridemia has which familial type? what is increased?
2091
Type IV;VLDL increased
2092
Q1047:Type IIa hypercholesterolemia has what pathophysiology?
2093
decreased number of LDL receptors
2094
Q1048:What metabolic processes occur solely in the mitochondria?
2095
FA oxidation (b-oxidation); acetyl CoA production; Krebs
2096
Q1049:What metabolic processes occur solely in the cytoplasm?
2097
glycolysis; FA synthesis; HMP shunt; protein synthesis (RER); steroid synthesis (SER)
2098
Q1050:What metabolic processes occur in both the mitochondria and the cytoplasm?
2099
Gluconeogenesis; urea cycle; heme synthesis
2100
Q1051:Regeneration of methionine (and thus S-adenosylmethionine/SAM) is dependent on what factor?
2101
B12
2102
Q1052:What three enzymes are associated with respiratory burst in the phagolysosome?
2103
NADPH oxidase;Superoxide dismutase;Myeloperoxidase
2104
Q1053:What three enzymes are associated with oxidative burst in the neutrophil?
2105
Catalase/glutathione peroxidase;Glutathione reductase;G6PD
2106
Q1054:Fructose intolerance is an inherent deficiency of what enzyme?
2107
aldolase B
2108
Q1055:What metabolic processes are inhibited from a fructose deficiency?
2109
glyogenolysis and gluconeogenesis
2110
Q1056:What are the symptoms of fructose intolerance?
2111
hypoglycemia; jaundice; cirrhosis; vomiting
2112
Q1057:What is the treatment for fructose intolerance?
2113
decrease intake of fructose and sucrose (glucose and fructose)
2114
Q1058:the appearance of fructose in the blood or urine is due to a defect in what enzyme? What is the px?
2115
fructokinase; the condition in benign and asymptomatic
2116
Q1059:Galactosemia is caused by the absence of what enzyme?
2117
galactose-1-phosphate uridyltransferase
2118
Q1060:What is the inheritance pattern and sx of galactosemia?
2119
AR; cataracts; hepatosplenomegally; mental retardation
2120
Q1061:Lactase deficiency is due to a loss of the enzyme from what area of the body?
2121
Brush border
2122
Q1062:What are the symptoms of lactase deficiency?
2123
bloating; cramps; osmotic diarrhea
2124
Q1063:Which are the essential amino acids?
2125
Leu; Lys; Ile; Phe; Trp; Met; Thr; Val; Arg; His
2126
Q1064:Which two essential amino acids are increased in histones which bind negatively charged DNA?
2127
Arg; Lys
2128
Q1065:What is the direct effect of excess NH4 (hyperammonemia) on metabolism?
2129
depletes a-ketoglutarate -> inhibition of the TCA cycle
2130
Q1066:What is the treatment for hyperammonenmia?
2131
Arginine
2132
Q1067:What are the signs of ammonia intoxication?
2133
tremor; slurring of speech; somnolence; vomiting; cerebral edema; blurring of vision
2134
Q1068:What is the fnxn of the urea cycle?
2135
to degrade amino acids into amino groups
2136
Q1069:What are the 8 main players in the urea cycle?
2137
Ornithine; Carbamoyl; Citruline; Aspartate; Argininosuccinate; Fumarate; Arginine; Urea;Ordinarily Careless; Crappers Are Also Frivolous About Urination
2138
Q1070:What are the main derivatives of Phenylalanine?
2139
Tyrosine;Dopamine;NE ;EPI
2140
Q1071:What are the main derivatives of Tryptophan?
2141
Niacin (NAD/NADP);Serotonin;Melatonin
2142
Q1072:What are the main derivatives of Histidine?
2143
Histamine
2144
Q1073:What are the main derivatives of Glycine?
2145
Heme
2146
Q1074:What are the main derivatives of Arginine?
2147
Creatine;Urea;NO
2148
Q1075:What are the main derivatives of glutamate?
2149
GABA
2150
Q1076:What enzyme is decreased in PKU?
2151
phenylalanine hydroxylase (or tetrahydrobiopterin cofactor)
2152
Q1077:What is the treatment for PKU?
2153
Decrease phenylalanine and increase tyrosine
2154
Q1078:Alkaptonuria is caused by a deficiency of what enzyme?
2155
homogentisic acid oxidase (alkapton bodies cause urine to turn black when standing)
2156
Q1079:Abinism is a congenital deficiency in what two factors?
2157
Either tyrosinase or defective tyrosine transporters
2158
Q1080:Albinism exhibits variable inheritance due to what mechanism?
2159
locus heterozygosity
2160
Q1081:What is the inheritance pattern for all three forms of homocystinuria?
2161
AR
2162
Q1082:What are the three forms of homocystinuria?
2163
1. cystathionine synthase deficiency;2. decreased affinity of cystathionine synthase for pyridoxal phosphate;3. methionine synthase deficiency
2164
Q1083:Cystinuria is a common inherited defect of;
2165
the renal tubular amino acid transporter for cystine; ornithine; lysine; and arginine
2166
Q1084:What can be a sequellae of excess cystine in the urine?
2167
cystine kidney stones
2168
Q1085:What is the treatment for cystinuria?
2169
acetazolamide (alkalinize the urine)
2170
Q1086:Maple syrup urine disease is caused by a decrease in which enzyme?
2171
a-ketoacid dehydrogenase
2172
Q1087:Which amino acids canno be degraded in maple syrup urine disease?
2173
Ile; Leu; Val;I Love Vermont maple syrup
2174
Q1088:What is codominance?
2175
Neither of two alleles is dominant (e.g. blood groups)
2176
Q1089:What is variable expression?
2177
nature and severity of the phenotype varies from 1 individual to another
2178
Q1090:What is incomplete penetrance?
2179
Not all individuals with a mutant genotype show the mutant phenotype
2180
Q1091:What is pleiotropy?
2181
1 gene has > 1 effect on an individual's phenotype
2182
Q1092:What is imprinting?
2183
At a single locus; only one allele is active; the other is inactive (methylation).Differneces in phenotype depend on whether the mutation is of maternal or paternal origin (e.g. Prader-Willi = paternal)
2184
Q1093:What is anticipation?
2185
Severity of disease worsens or age of onset of disease is earlier in succeeding generations (e.g. Huntington's)
2186
Q1094:What is loss of heterozygosity?
2187
If a patient inherits or develops a mutation in a tumor suppressor gene; the complementary allele must be deleted/mutated before the cancer develops (NOT true of oncogenes)
2188
Q1095:What is a dominant negative mutation?
2189
exerts a dominant effect. A heterozygote produces a nonfunctional altered protein that also prevents the normal gene product from functioning
2190
Q1096:What is linkage disequilibrium?
2191
tendency for certain alleles at 2 linked loci to occur together more often than expected by chance. Measured in a population; not in a family; and often varies in different populations
2192
Q1097:What is mosacism?
2193
when cells in the body have different genetic makeup (e.g.lyonization--random X inactivation in females)
2194
Q1098:What is locus heterogeneity?
2195
Mutations at different loci can produce the same phenotype
2196
Q1099:If a population is in Hardy-weinberg equilibrium; how do you measure allele prevalence?
2197
p^2 + 2pq + q^2 = 1; p and q are separate alleles and 2pq is the prevalence of heterozygotes
2198
Q1100:If a population is in Hardy-weinberg equilibrium; how do you measure allele prevalence?
2199
p+q=1
2200
Q1101:What are the 4 assumptions of Hardy-Weinberg law?
2201
1. no mutation; 2. no selection for any of the genotypes at a locus; 3. Random mating; 4. no migration into or out of a population
2202
Q1102:In Prader-Willi; whose normally active allele is deleted (maternal or paternal)?
2203
Paternal (opposite for angelman's)
2204
Q1103:What are some of the features of autosomal dominant inheritance?
2205
many generations affected; both male and female; often pleiotropic; present after puberty
2206
Q1104:What are some of the features of autosomal recessive inheritance?
2207
25% of offspring from 2 carrier parents affected; due to enzyme deficiencies; usually only seen in 1 generation; more severe than AD; presents in childhood
2208
Q1105:What are some of the features of X-linked recessive inheritance?
2209
Sons of heterozygous mothers have a 50% chance; commonly more severe in males but heterozygous females may be affected
2210
Q1106:What are some of the features of X-linked dominant inheritance?
2211
transmitted through both parents; ALL female offspring of an affected father will be diseased (either male of female from mother); hypophosphatemic rickets
2212
Q1107:What are some of the features of mitochondrial inheritance?
2213
transmitted only through mother; all offspring of affected mother show disease; Leber's hereditary optic neuropathy
2214
Q1108:Mode of inheritance and major features: APKD
2215
AD; always bilateral; mutation in APKD1 (Chr 16); berry aneurysms; mitral valve prolapse (juvie form is recessive)
2216
Q1109:Mode of inheritance and major features: familial hypercholesterolemia
2217
AD; elevated LDL from a defective or absent LDL receptor; severe atherosclerosis disease at young age; tendon xanthomas (achilles); may have MI before age 20
2218
Q1110:Mode of inheritance and major features: Marfan's Syndrome
2219
AD; fibrilin gene mutation = connective tissue disorders; tall; aortic incomptenece and dissecting aortic aneurysms; floppy mitral valve
2220
Q1111:Mode of inheritance and major features: Neurofibromatosis; type 1
2221
AD long arm of chr. 17; caf-au-lait spots; neural tumors; Lisch nodules (pigmented iris hamartomas); pheo's
2222
Q1112:Mode of inheritance and major features: Neurofibromatosis; type 2
2223
AD; bilateral acoustic neuroma; juvenile cataracts; NF2 gene on chr 22 (type 2 = 22)
2224
Q1113:Mode of inheritance and major features: tuberous sclerosis
2225
AD; facial lesions (adenoma sebaceum); hypopigmented "ash leaf spots" on skin; cardiac rhabdomyomas; incomplete penetrance/variable presentation
2226
Q1114:Mode of inheritance and major features: von HippelLindau dz (VHL)
2227
AD; hemangioblastomas of the retina/cerebellum/medulla; 50% develop multiple bilateral renal cell carcinomas; deletion of VHL gene on Chr 3 (three words for Chr 3)
2228
Q1115:Mode of inheritance and major features: Huntington's
2229
AD; triplet repeat disorder on chr 4; depression; progressive dementia; choreiform movements; caudate atrophy; decreased levels of GABA and ACh in brain
2230
Q1116:Mode of inheritance and major features: Familial adenomatus polyposis
2231
AD; progresses to colon cancer unless resected; Deletion on chr. 5 (5 letters in polyp)
2232
Q1117:Mode of inheritance and major features: Hereditary spherocytosis
2233
AD; spheroid erythrocytes; hemolytic anemia; increases MCHC; splenectomy is curative
2234
Q1118:Mode of inheritance and major features: Achondroplasia
2235
AD; cell-signalling defect of fibroblast growth factor (FGF) receptor 3; dwarfism (short limbs but head and truck are normal size); associated with advanced PATERNAL age
2236
Q1119:What gene is defective in cystic fibrosis?
2237
CFTR on chromosome 7
2238
Q1120:What are the typical manifestations of a pt with CF?
2239
recurrent pulmonary infections; infertility in males (absent vas deferens); fat soluble vitamin deficiencies
2240
Q1121:What is the treatment for CF?
2241
n-acetylcysteine to loosen mucous plugs
2242
Q1122:What are the typical X-linked recessive disorders?
2243
Bruton's agammaglobulinemia; Fragile X; G6PD deficiency; ocular albinism; Lesch-Nyhan; Duchenne's; Hemophilia A and B; Fabry's dz; Hunter's syndrome
2244
Q1123:Duchenne's MD is caused by what type of genetic mutation?
2245
Frame shift leading to deletion of the dystrophin gene
2246
Q1124:What movement is a diagnostic sign of Duchenne's MD?
2247
Gower's maneuver
2248
Q1125:What is the less severe form of duchenne's MD?
2249
Becker's
2250
Q1126:What is the 2nd most common cause of genetic mental retardation after Down's?
2251
Fragile X syndrome
2252
Q1127:What are the clinical features of Fragile X syndrome?
2253
macro-orchidism; long face with a large jaw; large everted ears; autism
2254
Q1128:What type of disorder is Fragile X?
2255
Triple repeat (CGG) - may show anticipation
2256
Q1129:What are the trinucleotide repeat diseass?
2257
Huntington's; myotonic dystrophy; Friedreich's ataxia; Fragile X
2258
Q1130:What are the three autosomal trisomies and which chr's are affected?
2259
Down's (21); Edward's (18); Patau (13)
2260
Q1131:What are the prenatal signs of Down's?
2261
decreased a-fetoprotein; increased b-hCG; increased nuchal translucency
2262
Q1132:Pts with Down's are at risk of developing what neurological disorder?
2263
early-onset Alzheimer's
2264
Q1133:95% of Down's cases are due to what problem in meiosis? What is the associated parental "problem"?
2265
meiotic nondisjunction of homologous chromosomes; associated with advanced maternal age
2266
Q1134:Cri-du-chat is associated with what chromosomal abnormality?
2267
congenital deletion of short arm of chr 5
2268
Q1135:22q11 syndromes are associted with what signs/symptoms?
2269
cleft papate; abnormal facies; thymic aplasia (t-cell deficiency); cardiac defects; hypocalcemia 2' to parathyroid aplasia; variable presentation as DiGeorge
2270
Q1136:When are the risks for fetal alcohol syndrome the greatest?
2271
3-8 weeks
2272
Q1137:What is the #1 cause of congenital malformations in the US?
2273
Fetal Alcohol Syndrome
2274
Q1138:DNA polymerase III vs I
2275
III--5'->3' synthesis; 3'->5' exonuclease (proofread); I-degrades RNA primer (5'->3' exonuclease); fills in gap w/DNA
2276
Q1139:nucleotide excision repair vs base excision repair
2277
nuc--releases damaged OLIGOnucleotides (ex; in XP); base-specific glycosylases recognize and remove damaged BASES
2278
Q1140:alpha-amanitin
2279
poison from a mushroom; inhibits euk RNA pol II (mRNA); initially GI problems; rapidly results in death
2280
Q1141:different RNAs of the euk RNA polymerases
2281
RNA pol I--rRNA; RNA pol ii--mRNA; RNA pol III--tRNA
2282
Q1142:mRNA stop codons
2283
UGA; UAG; UAA
2284
Q1143:site where negative gene expression regulators bind
2285
operator
2286
Q1144:amino acid binds to which end of tRNA?
2287
3' end (CCA end)
2288
Q1145:I cell dz
2289
failure of addition of mannose-6-phosphate to lysosome enzymes-->enzymes secreted outside cell; get coarse facial features; clouded corneas; restricted jnt movement; high plasma lysosomal enzymes; often fatal in childhood
2290
Q1146:vesicular trafficking protein--COPI-->
2291
retrograde; Golgi->ER
2292
Q1147:vesicular trafficking protein COPII--> ?
2293
anterograde; RER->cis-Golgi
2294
Q1148:vesicular trafficking protein clathrin--> ?
2295
trans-Golig-> lysosome; plasma membrane-> endosomes
2296
Q1149:type III collagen
2297
reticulin; in skin; blood vessels; uterus; fetal tissue; granulation tissue. Most common type of Ehrlos-Danlers involves this
2298
Q1150:type IV collagen found where?
2299
basement membrane; basal lamina
2300
Q1151:steps of collagen synthesis
2301
1. synthesis of preprocollagen (rER); 2. hydroxylation (ER; requires vit C); 3. glycosylation (Golgi); 4. exocytosis (still as procollagen); 5. proteolytic processing (tropocollagen); 6. crosslinking (lysyl oxidase; collagen fibrils)
2302
Q1152:which type of osteogenesis imperfecta is fatal in utero or in neonate?
2303
type II
2304
Q1153:vimentin stains?
2305
connective tissue
2306
Q1154:desmin stains?
2307
muscle
2308
Q1155:cytokeratin stains?
2309
epithelial cells
2310
Q1156:all enzymes except 1 of TCA are WHERE and where/what is the exception?
2311
all but succinate DH are in mitochondrial MATRIX; succinate DH is in inner mitochondrial membrane (along with ETC)
2312
Q1157:irreversible enzymes in gluconeogenesis (4)
2313
pyruvate carboxylase (mit; pyruvate->oxaloacetate); PEP carboxykinase (cyt; oxalo->PEP); F1;6BPase (cyt; F1;6BP>F6P); G6Pase (er; G6P->glucose)
2314
Q1158:most potent activator of PFK? (rate limiter of glycolysis)
2315
F2;6BP (overrides inhibition by ATP; citrate)
2316
Q1159:what are the only purely ketogenic amino acids?
2317
lysine; leucine
2318
Q1160:how much ATP produced per acetyl CoA in TCA cycle?
2319
12 (3/NADH; 2/FADH2; 1/GTP)
2320
Q1161:what is rotenone
2321
fish poison that complexes with NADH DH (complex I of ETC); NADH accumulates; but can still get electrons into ETC from FADH2
2322
Q1162:what is antimycin A?
2323
abx that blocks passage of electrons through cytochrome b-c1 complex (ETC)
2324
Q1163:why is cyanide poisonous?
2325
combines with cytochrome oxidase and blocks electrons->O2 in ETC; (CO does this also)
2326
Q1164:what is dinitrophenol (2;4DNP)?
2327
ionophore that uncouples ETC
2328
Q1165:what is the enzyme of the irrerversible/oxidative reaction of PPP (HMP shunt)?
2329
glucose phosphate DH
2330
Q1166:what is the enzyme of the reversible/nonoxidative reaction in PPP (HMP shunt)?
2331
transketolase (requires thiamine)
2332
Q1167:essential fructosuria
2333
defect in fructokinase (F->F1P); however; this is benign and asymptomatic; only get fructose in blood and urine
2334
Q1168:aldolase B deficiency--> ?
2335
(AR) fructose intolerance; F1P accumulates and decreases available phosphate. This inhibits glycogenolysis; gluconeogenesis; get hypoglycemia; jaundice; cirrhosis; vomiting
2336
Q1169:which 5 essential amino acids are glucogenic?
2337
met; thr; val; arg; his;(Argh; This Here Mnemonic is Vile)
2338
Q1170:which essential amino acids are glucogenic and ketogenic?
2339
Ile; Phe; Trp
2340
Q1171:Phe is precursor for?
2341
tyrosine; thyroxine; DOPA; melanin; DA; NE; Epi
2342
Q1172:Tryptophan is precursor for?
2343
niacin; serotonin; melatonin
2344
Q1173:glycine is precursos for?
2345
porphyrin; (succinyl CoA+ glycine-> ALA; via ALA synthetase)
2346
Q1174:arginine is precursor for?
2347
creatine; NO; urea
2348
Q1175:glutamate is precursor for?
2349
GABA; your mom
2350
Q1176:cystinuria is inherited defect for renal transport of which amino acids?
2351
cystine; ornithine; lysine; arginine
2352
Q1177:which GLUT is insulin responsive?
2353
GLUT 4 (adipose; sk mm)
2354
Q1178:which GLUT is in RBCs; brain?
2355
GLUT 1
2356
Q1179:GLUT 2 is where?
2357
beta islet cells; liver; kidney
2358
Q1180:which enzyme affected in a)Pb poisoning b) AIP c) PCT
2359
a)ferrochelatase; ALA dehydrase; b) porphobilinogen deaminase (formerly known as: uroporphyrinogen I synthase); c) uroporphyrinogen decarboxylase
2360
Q1181:Full term neonate of uneventful delivery becomes mentally retarded and hyperactive and has musty odor;WHat is the diagnosis
2361
PKU
2362
Q1182:Stressed executive comes home from work consumes 7 or 8 martinis in rapid succession before dinner and becomes hypoglycemic;WHat is the mechanism
2363
NADH increase prevents gluconeogenesis by shunting pyruvate and oxaloacetate to lactate and malate
2364
Q1183:2 year old girl has increase in abdominal girth; failure to thrive and skin and hair depigmentation - what is the diagnosis
2365
Kwashiorkor
2366
Q1184:Alcoholic develops rash; diarrhea and altered mental status;What is the vitamin defficiency
2367
B3 (pellagra)
2368
Q1185:20 year old male presents with idiopathic hyperbillirubinemia;WHat is the most common cause
2369
Gilberts syndrome
2370
Q1186:51 year old man has black spots on his sclera and has noted that urine turns black when he is standing
2371
Alkaptonuria
2372
Q1187:25 year old complains of chest pains and has xanthoma of Achilles tendon;What is his disease and where is the defect
2373
Familial hypercholesterolemia; lDL receptor
2374
Q1188:Condensed by negatively charged DNA looped twice around positively charged H2a; H2b; H3 and H4 histones (nucleosome bead)
2375
Chromatin
2376
Q1189:_ ties nucleosomes together in a string (30 nm fiber)
2377
H1 histone
2378
Q1190:Condensed; transcriptionally inactive chromatin
2379
Heterochromatin
2380
Q1191:Less condensed; transcriptionally active chromatin
2381
Euchromatin
2382
Q1192:Name purines
2383
A; G;PURe As Gold
2384
Q1193:Name pyrimidines
2385
C; T; U;CUT Pye
2386
Q1194:Which nucleotides have two rings?
2387
Purines
2388
Q1195:WHich nucleotides have one ring?
2389
Pyrimidines
2390
Q1196:Which nucleotide has a ketone
2391
guanine
2392
Q1197:Which nucleotide has methyl
2393
thymine
2394
Q1198:Deamination of cytosine makes _
2395
Uracyl
2396
Q1199:Uracil is found in _ ;Thymine is found in _
2397
Uracil - RNA;Thymine - DNA
2398
Q1200:Which bond is stronger GC or AT
2399
GC (3 H bonds); AT is weaker (2 H bonds)
2400
Q1201:If GC content is increased what happens to melting temperature
2401
Increases
2402
Q1202:Nucleotides are linked by _
2403
3-5 phosphodiesterase bond
2404
Q1203:Substituting purine for purine or pyrimidine for pyrimidine is called ?
2405
TransItion (identical)
2406
Q1204:Substituting purine for pyrimidine or vice versa
2407
TransVersion (conVersion between types)
2408
Q1205:4 features of genetic code
2409
Unambiguous (each codon for only one amino acid);Degenerate (more then one codon can code for same amino acid);COmmaless; nonoverlapping;Universal
2410
Q1206:Name type of mutation - same amino acid; often base change in 3d position of codon tRNA wobble)
2411
Silent mutation
2412
Q1207:Name type of mutation - changed amino acid (conservative - new amino acid is similar in chemical structure)
2413
Missence mutation
2414
Q1208:Name type of mutation - change resulting in early stop codon
2415
Nonsense mutation
2416
Q1209:Name type of mutation - change resulting in misreading of all nucleotides downstream; usually resulting in a truncated protein
2417
Frameshift mutation
2418
Q1210:In prokaryotic replication; is there single or multiple origins of replication
2419
Single origin of replication - continuous DNA synthesis on leading strand and discontinuous (okazaki fragments) on lagging strand
2420
Q1211:What is the role of primase in prokaryotic replication
2421
Primase makes RNA PRIMER on which DNA polymerase III can initiate replication
2422
Q1212:Elongates the chain by adding deoxynucleotides to the 3 end until it reaches primer of preceding fragment
2423
DNA polymerase III
2424
Q1213:Name enzyme that degrades RNA primer
2425
5'-3' exonuclease activity of DNA polymerase I
2426
Q1214:Has 5'-3' synthesis and proofreads with 3'-5' exonuclease
2427
DNA polymerase III
2428
Q1215:Create a nick in the helix to relieve supercoils
2429
DNA topoisomerases
2430
Q1216:Name DNA repair defects
2431
Xeroderma pigmentosum (skin sensitivity to UV light);Ataxia-telangiectasia (x rays);Blooms syndrome (radiation);Fanconis anemia (cross linking agents)
2432
Q1217:Defective excision repair such as uvr ABC endonuclease. Results in inability to repair thymidine dimers; which form in DNA when exposed to UV light;Associated with dry skin and with melanoma and other cancers;Inheritance pattern
2433
Xeroderma pigmentosum;Autosomal recessive
2434
Q1218:In which direction is Dna and RNA synthesized
2435
5'-->3'
2436
Q1219:Chromatin Structure
2437
negatively charged DNA wrapped around a histone (H2A; H2B; H3; H4); connected by H1;Condensed = hetero-; inactive;Less condensed = eu-; active
2438
Q1220:Nucleotides
2439
Purines (A; G) large rings;Pyrimidines (C; U; T) small rings;PURe As Gold;CUT the PY (pie)
2440
Q1221:Eukaryotic DNA polymerases
2441
alpha - replicates lagging strand; synthesizes RNA primer;beta - repairs DNA;gamma - replicates mitochondrial DNA;delta - replicates leading strand;epsilon - repairs DNA
2442
Q1222:DNA repair process
2443
endonuclease cleaves strand upstream;exonuclease clease strand downstream;DNA polymerase Beta fills gap
2444
Q1223:DNA repair defects lead to disease
2445
Xeroderma Pigmentosum (UV light);Ataxia-Telangiectasia (Xrays) ;Bloom's syndrome (radiation);Fanconi's anemia (crosslinking agents)
2446
Q1224:Eukaryotic RNA polymerases
2447
polymerase I - rRNA;polymerase II - mRNA; snRNPs;polymerase III - tRNA;no proofreading;alphaamanitin inhibits poly II
2448
Q1225:Start and Stop Codons
2449
Start;AUG (Are U Going?);Stop;UGA (U Go Away);UAA (U Are Away);UAG (U Are Gone)
2450
Q1226:Regulation of Gene Expression
2451
Promoter - where RNA polymerase/transcription factors bind upstream;TATA (25 bp upstream);CAAT (70 bp upstream);Enchancer - where transcription factors bind to increase expression
2452
Q1227:RNA processing
2453
1. 5' 7-methyl-guanine cap;stability; mediates translation;2. 3' Polyadenylation;stability; mediates nuclear export;3. Splicing out introns;for fun?
2454
Q1228:tRNA Structure
2455
75-90 nucleotides;anticodon end is opposite 3' aminoacyl ;3' CCA sequence;chemically modified bases
2456
Q1229:tRNA charging
2457
aminoacyl-tRNA synthetase ;adds 1 aa to 3' end; using 1 ATP;proofreading capability
2458
Q1230:tRNA wobble
2459
allows many codons to match one tRNA with only the first two bases of it's anticodon
2460
Q1231:PCR
2461
ligate/denature DNA;add premade specific probes;add heatstable DNA polymerase;repeat until DNA sequence is amplified
2462
Q1232:Molecular Biology Techniques
2463
Southern - DNA probe to find DNA;Northern - DNA probe to find RNA;Western - Ab probe to find protein;Southwestern - DNA probe for TFs
2464
Q1233:ELISA
2465
labeled Ab/Ag to Ag/Ab in pt sample;used in HIV;Sn = Sp = ~100%
2466
Q1234:Inheritance Modes
2467
Auto Dom - structural genes;M/F affected equally;presents after puberty;Auto Rec - 25% offspring of carriers;enzyme deficiencies;present in childhood;X-link Rec - 50% sons of hetero mom;X-link Dom - all F kids of sick dad ;M/F kids of sick mom;hypophosphatemic rickets;Mitochondrial transmitted by mom;all kids may show dz;leber's hereditary optic neuropathy;mitchondrial myopathies
2468
Q1235:Variable expression
2469
nature and severity of phenotype varies from one pt to another
2470
Q1236:Incomplete penetrance
2471
Not all individuals with mutant genotype show dz phenotype
2472
Q1237:Pleiotropy
2473
one gene has greater than one effect on phenotype
2474
Q1238:Imprinting
2475
Differences in phenotype depend on whether the mutation is of maternal or paternal origin;Angelmans - maternal transmission;Prader-Willi - paternal transmission
2476
Q1239:Anticipation
2477
Severity of disease worsens or age of onset decreases in successive generations
2478
Q1240:Loss of heterozygosity
2479
if a pt inherits or develops a mutation in a tumor suppressor gene; the complementary allele must be deleted/mutated before cancer develops (not true of oncogenes)
2480
Q1241:Dominant negative mutation
2481
exerts a dominant effect because the body cannot produce enough of the normal gene product with only one functioning allele or presence of the altered gene product inhibits the normal product
2482
Q1242:Linkage disequilibrium
2483
two alleles at linked loci occur together more often than probability would suggest.
2484
Q1243:Hardy Weinberg population genetics
2485
assumes no migration; no mutation; no natural selection; no mating preferences
2486
Q1244:Down Syndrome
2487
mental and growth retardation;trisomy 21;tested with karyotyping;1:800;increased risk with maternal age;decreased AFP in amniotic fluid;polyhydramnios
2488
Q1245:Fragile X
2489
mental retardation;characteristic facial features;large testes;Xlinked;failure to express RNA binding protein
2490
Q1246:Sickle cell anemia
2491
recurrent painful crises;autosplenectomy -> imm def;autosomal recessive;1 missense mutation in beta globin;1:400 Af-Am
2492
Q1247:Cystic fibrosis
2493
recurrent pulmonary infections;exocrine pancreas insufficiency;infertility;autosomal recessive;mutated CFTR (Cl- channel);1/2000 whites
2494
Q1248:Neurofibromatosis
2495
cafe-au-lait spots;neurofibromas;pheochromocytomas;autosomal dominant;signaling molec loss-of-fxn mutations
2496
Q1249:Duchenne's Muscular Dystrophy
2497
muscular weakness and degeneration;X-linked recessive;dystrophin gene deletion;Dx DNA test;pseudohypertrophy of calf
2498
Q1250:Osteogenesis Imperfecta
2499
increased bone fx;blue sclera - translucent CT over choroid;many mutations - abn collagen synth;1:10000
2500
Q1251:Phenylketonuria
2501
autosomal recessive;phenylalanine hydroxylase deficiency;tetrahydrobiopterin cofactor deficiency;tyrosine becomes essential;mental retardation;fair skin (decreased melanin);eczema;musty body odor;decrease phenylalanine in diet;increase tyrosine in diet
2502
Q1252:Fabry's disease
2503
X-linked recessive;alpha galactosidase deficiency;ceramide trihexoside accumulation;renal failure;peripheral neuropathy hands/feet;CV disease
2504
Q1253:Krabbe's disease
2505
Autosomal recessive;Bgalactosidase def;galactocerebroside accumulation;optic atrophy;peripheral neuropathy/spasticity;developmental delay
2506
Q1254:Gaucher's disease
2507
glucocerebrosidase def;glucocerebroside accumulation;hepatosplenomegaly;aseptic necrosis of femoral head;bone crises;Gaucher's cells (macrophages)
2508
Q1255:Niemann-Pick disease
2509
Autosomal recessive;sphingomyelinase def;sphingomyelin accum in reticuloendothelial cells/parenchyma;leading to organomegaly and progressive neurodegeneration;cherry red spot on macula;No Man PICKs his nose w/ a SPHINGer
2510
Q1256:Tay-Sachs disease
2511
Autosomal recessive;Absence of hexosaminidase A;GM2 ganglioside accumulation;Askenazi Jews (carriers = 1/30);death by age 3;cherry red spot on macula
2512
Q1257:Metachromatic Leukodystrophy
2513
Autosomal recessive;arylsulfatase A deficiency;demyelination with w/ ataxia; dementia;Cerebroside sulfate in brain; liver; kidney; PNS
2514
Q1258:Hurler's syndrome
2515
Autosomal recessive;alpha-L-iduronidase deficiency;corneal clouding;gargoylism;developmental delay;Hurlers (shot put) do more damage than hunters (arrows)
2516
Q1259:Hunter's syndrome
2517
X-linked recessive;iduronate sulfatase deficiency;mild form of Hurler's (mild retardation);with aggressive behavior;no corneal clouding
2518
Q1260:Lineweaver Burke plots
2519
noncompetitive inhibitors change the Vmax (the y-intercept will increase);competitive inhibitors change the Km (the xintercept will increase)
2520
Q1261:Sodium Potassium Pump
2521
BL membrane;moves 3 Na out; 2 K in; uses 1 ATP;inhibitied by oubain; digoxin
2522
Q1262:Collagen synthesis and structure
2523
hydoxylation of proline/lysine residues in RER requires Vit C;procollagen exocytosed into ECM;peptidases cleave terminal portion;self-assembly into collagen fibrils;crosslinked by lysyl oxydase
2524
Q1263:Ehlers-Danlos Syndrome
2525
faulty collagen synthesis causes;hyperextensible skin;tendency to bleed;hypermobile joints
2526
Q1264:S-adenosyl methionine
2527
ATP + methionine = SAM;methyl group donor;makes phosphocreatine;regeneration with B12
2528
Q1265:NAD+/NADPH
2529
NAD+ catabolic electron acceptor;NADPH anabolic electron donor;product of HMP shunt;makes superoxide;regenerates GSH;p450
2530
Q1266:Glycolysis: irreversible reactions
2531
glu to G6P;G6P inhibits hexokinase;F6P to F1;6BP;ATP/citrate inhib PFK ;F2;6BP/AMP upreg PFK;PEP to pyruvate;ATP/Ala inhib Pyr Kinase;F1;6BP upreg Pyr Kinase;Pyr to AcetylCoA;ATP/NADH/AcylCoA inhib Pyr DeH
2532
Q1267:Pyruvate Dehydrogenase Complex
2533
pyr + NAD+ + CoA -> ;AcylCoA + CO2 +NADH;3 enzymes;5 cofactors;B1 thiamine;B2 FAD;B3 NAD;B5 CoA;lipoic acid
2534
Q1268:Pyruvate Dehydrogenase Deficiency
2535
buildup of pyruvate and alanine;reduced to lactate -> acidosis;seen in alcoholics in B1 deficiency;Rx: high fat/ketogenic nutrients
2536
Q1269:Cori cycle
2537
shuttles lactate from muscle to liver for regeneration to pyruvate;allows muscles to fxn anaerobically
2538
Q1270:TCA cycle
2539
12 ATP/Acyl CoA;24 ATP/glu molec;1st four enzymes are inhib by ATP/NADH;Cindy Is Kind So She's Friendly More Often
2540
Q1271:Gluconeogenesis: irreversible reactions
2541
Pyr to oxaloacetate;Pyr carb req ATP/AcylCoA/biotin;Oxaloacetate to PEP;PEP carbK req GTP;F1;6BP to F6P;F1;6BPase;G6P to glu;G6Pase;enzymes in liver; kidney; intestine;hypogly with G6Pase def (von Gierke's)
2542
Q1272:Glucose 6 Phosphate Dehydrogenase Deficiency
2543
rate limiting enzyme of HMP shunt;necessary for RBCs to produce NADPH for GSH regeneration;loss leads to hemolytic anemia;triggered w/ oxidizing agents: sulfas; primaquine; fava beans;Heinz bodies - Hb precipitates;prevalent in Af-Am;X-linked recessive
2544
Q1273:Fructose intolerance
2545
aldolase B deficiency;all phosphate accum in F1P;inhib glycogenolysis/gluconeogenesis;hypoglycemia; jaundice; cirrhosis;Rx: decrease fructose/sucrose
2546
Q1274:Galactose intolerance
2547
galactose-1P uridyltransferase def;accum of toxic metabolites;cataracts;hepatosplenomegaly;mental retardation;Rx: decrease galactose/lactose
2548
Q1275:Essential Amino Acids
2549
PVT TIM HALL;phe;val;trp;thr;ile;met;his;arg;leu;lys
2550
Q1276:Urea Cycle
2551
C from CO2 (mitochondria);N from NH4 (mitochondria);N from aspartate (cytosol)
2552
Q1277:Phenylalanine derivatives
2553
Tyrosine; Dopa; DA; NE; Epi; Melanin; Thyroxine
2554
Q1278:Tryptophan derivatives
2555
Niacin (NAD; NADP);Serotonin;Melatonin
2556
Q1279:Histidine derivatives
2557
Histamine
2558
Q1280:Glycine derivatives
2559
Porphyrin/Heme
2560
Q1281:Arginine derivatives
2561
Creatine;Urea;Nitric Oxide
2562
Q1282:Homocytinuria
2563
defective cystathionine synthase or;defective methionine synthase;cysteine become essential;mental retardation;osteoporosis;lens subluxation;tall stature;kyphosis
2564
Q1283:Maple Syrup Urine Disease
2565
alpha ketoacid dehydrogenase def blocked degradation of branched aa (Ile; Leu; Val = I Love Vt maple syrup);CNS defects; mental retardation; death
2566
Q1284:Adenosine Deaminase Definiciency
2567
SCID;Excess dATP prevents production of other deoxyribose nucleotides via ribonucleotide reductase;-> lymphopenia
2568
Q1285:Lesch-Nyhan Syndrome
2569
X-linked recessive;LNS (Lacks Nucleotide Salvage);HGPRT deficiency -> dec IMP/GMP prod -> inc uric acid excr;retardation;self-mutilation;aggression;hyperuricemia; gout; choreoathetosis
2570
Q1286:Fatty Acid Metabolism
2571
Synthesis = cytosol;enters via citrate shuttle;degradation = mitochondria;enters via carnitine shuttle
2572
Q1287:von Gierke's disease
2573
Glycogen storage disease type I;glucose-6Pase deficiency;(liver becomes like muscle);severe fasting hypoglycemia;glycogen accum in liver;Very
2574
Q1288:Pompe's disease
2575
Glycogen storage disease type II (trashes the pump);lysomal alpha-1;4-glucosidase def;cardiomegaly;early death;Poor
2576
Q1289:Cori's Disease
2577
Glycogen storage disease type III;deficiency of debranching enzyme;alpha-1;6-glucosidase;Carbohydrate
2578
Q1290:Glycogen storage disease type V
2579
McArdle's disease;muscle glycogen phosphorylase def;glycogen in musc -> painful cramps;myoglobinuria w/ strenuous exercise;Metabolism
2580
Q1291:Ketone bodies
2581
acetoacetate and betahydroxybutyrate;made in liver from HMG-CoA;excr in urine (test for acetoacetate);elevated in starvation/DM ketoacidosis;fruity breath;converted to 2 AcetylCoA in brain
2582
Q1292:Insulin
2583
from pancreatic beta cells;inc glu uptake in musc/liver/fat;GLUT2 R in beta cells;GLUT4 in periphery;inhib glucagon from alpha cells;C-peptide cleaved > activation
2584
Q1293:Glucagon vs. Insulin
2585
Glucagon phosphorylates;turns OFF glycogen synthase;turns ON glycogen phosphorylase;Insulin dephosphorylates;turns ON glycagen synthase;turns OFF glycagen phosphorylase
2586
Q1294:Cholesterol synthesis and esterification
2587
HMG-CoA reductase is the rate limiting enzyme in synthesis;inhib by Lovastatin ;Esterification via LCAT
2588
Q1295:Chylomicrons
2589
dietary TGs to peripheral tissues; dietary chol to liver;travel in lymphatics to thoracic duct to blood;excess -> xanthomas;Apo B48 mediates excretion;Apo CII for lipoprotein lipase;Apo E mediates liver uptake
2590
Q1296:VLDL
2591
hepatic TGs to periphery;excess causes pancreatitis;apo B100 mediates secr;apo CII for lipoportein lipase;apo E mediates liver uptake
2592
Q1297:LDL
2593
produced via VLDL modification;hepatic cholesterol to periphery;uptake via R-med endocytosis (Apo B100);excess causes ATH; xanthomas;Bad for you
2594
Q1298:HDL
2595
periphery cholesterol to liver;repository for Apo C/E;Apo A1 for LCAT & chol-esters;Good for you
2596
Q1299:Familial Hypercholesterolemia
2597
Increased Cholesterol/LDL;Auto Dom defect in LDL R;xanthomas;MI before 30y in homozygous pt
2598
Q1300:Familial Hypertriglyceridemia
2599
Increased TGs/VLDL;Hepatic overproduction of VLDL
2600
Q1301:Heme Synthesis
2601
Rate limiting step: glycine + succinyl CoA -> ALA via ALA synthase;occurs w/in mitochondria;inhibition -> porphyrias;Pb inhib other enzymes -> microcytic/hypochromic anemia and porphyria
2602
Q1302:Heme catabolism
2603
scavenged from RBCs;heme -> biliverdin -> bilirubin;bilirubin excr in bile;converted to urobilinogen;excreted as urobilin in urine
2604
Q1303:Methemoglobinemia
2605
Fe in ferric (oxidized) state;low O2 affinity
2606
Q1304:Hb structure/affinity
2607
Cl; H; CO2; DPG; heat favor the T (taut) form over R (relaxed);causes decreased O2 affinity
2608
Q1305:Vitamin A
2609
Retinol; in retinal pigment;deficiency: night blindness; dry skin
2610
Q1306:Vitamin B1
2611
Thiamine; cofactor in pyruvate carboxylase ;deficiency: Beriberi and Wernicke's encephalopathy
2612
Q1307:Vitamin B2
2613
Riboflavin; FAD/FADH2;deficiency: corneal vascularization; cheilosis
2614
Q1308:Vitamin B3
2615
Niacin; NAD/NADH (from Trp);deficiency: Pellagra;caused by carcinoid syndrome; INH; Hartnup Dz;Diarrhea; Dermatitis; Dememtia
2616
Q1309:Vitamin B5
2617
Pantothenate -> Coenzyme A;FA synth; Kreb's Cycle;deficiency: Dermatitis; Enteritis; Alopecia; adrenal insufficiency
2618
Q1310:Vitamin B6
2619
Pyridoxine;Converted to Pyridoxal Phosphate;cofactor in transamination (ALT/AST)
2620
Q1311:Biotin
2621
cofactor for carboxylation;1. pyruvate -> oxaloacetate;2. acetyl CoA -> malonyl CoA;3. proprionyl CoA -> methylmalonyl CoA
2622
Q1312:Folic Acid
2623
Coenzyme for 1-C transfer;methylation rxns for nitrogenous bases;most common vitamin deficiency in US: macrocytic; megaloblastic anemia
2624
Q1313:Vitamin B12
2625
Cobalamin;Cofactor for homocyteine methylation & methylmalyonyl handling;Stored in liver;deficiency caused by: malabsorption (sprue; enteritis; diphyllobothrium latum); pernicious anemia; ileectomy;Dx: Schilling test
2626
Q1314:Vitamin C
2627
Ascorbic Acid;cofactor for hydroxylation of proline/lysine in collagen;facilitates Fe adsorption by keeping it reduced;Deficiency: scurvy = swollen gums; bruising; poor healing
2628
Q1315:Vitamin D
2629
D2 absorbed from gut;D3 formed in skin;25OH D3 storage form;1;25OH D3 active form;increases Ca/PO4 absorption;deficiency: rickets; osteomalacia; hypoCa tetany;excess: hyperCa; stupor;caused by sarcoidosis mphages producing active D3
2630
Q1316:Vitamin E
2631
antioxidant protects RBCs against hemolysis;increased fragility of RBCs
2632
Q1317:Vitamin K
2633
synthesis of clotting factors II; VII; IX; X and Proteins C/S;synth'd by intestinal flora;deficiency seen in broadspectrum ABx; warfarin use;inc PT; PTT; INR;Neonatal hemorrhage
2634
Q1318:Ethanol Metabolism
2635
alcohol and acetaldehyde dehydrogenase produce NADH and acetate;excess NADH shunts pyruvate away from gluconeogenesis to lactate;leads to hypoglycemia and FA synth (fatty liver)
2636
Q1319:Where does calcitonin work?
2637
Osteoclast inhibits bone reabsorption
2638
Q1320:What receptor does PTH hook on?
2639
Osteoblast
2640
Q1321:What does PTH releases?
2641
IL-1 Osteoclast activating factor
2642
Q1322:What keeps a check on IL-1?
2643
Testosteron and Estrogen
2644
Q1323:Why do women get osteoporosis?
2645
Menopausal Women; breaking bone down since IL-1 is not checked
2646
Q1324:What enzyme is in the S.E.R. when you have increase P-450?
2647
Gamma-glutamyl transferase;- key tests for alcoholics
2648
Q1325:Why does renal dz causes vitamin D deficiency? Caused by Diabetes Mellitus
2649
no alpha-1-hydroxylase
2650
Q1326:Vitamin D from the store; what happens to it before it becomes activate?
2651
25-OH D activated in the liver;- 1;25 OH D in kidneys by alpha-hydroxylase
2652
Q1327:Hypervitaminosis D? What happens?
2653
Increase Calcium (hypercalcemia); more Calcium in urine causing Stones.
2654
Q1328:Type I Vitamin D is what?
2655
Missing alpah-1-hydroxylase
2656
Q1329:What is wrong with Type II Vitamin D deficiency?
2657
Bad receptors
2658
Q1330:What is vitamin E main fuction?
2659
- Prevent lipid peroxidation of cell membranes;- protect membrane from breaking down by phospholipid A;neutralizes oxidis LDL (makes it less injurious); i.e. cardioprotective
2660
Q1331:Who gets Vitamine E deficiency?
2661
Cystic Fibrosis Patients
2662
Q1332:Does vitamin E deficiency cause hemolytic anemia?
2663
Yes! Susceptible to membrane damage (radical)
2664
Q1333:Does vitamin E help myelin?
2665
Yes! Problems neurologicly since they disrupt the membranes in the brain. Spinalcerebellar Dz
2666
Q1334:What vitamin enhances the activity of warfarin?
2667
Vitamin E excess!
2668
Q1335:What changes k2(inactive) to k1?
2669
epoxide reductase ;k1 gamma carboxylates activates factors II; VII; IX; X;hydroxylates proline and lisine;activates them so they are fucntional
2670
Q1336:Warfarin does what?
2671
Blocks epoxide reductase; all vitamin K is K2 (inactive)
2672
Q1337:Vitamine K deficiency?
2673
Prolong Antibiotics;Poor Diets;New Borns
2674
Q1338:What amino acids stimulate Growth Hormone (GH)?
2675
Arganine and Histidine(Ornithine)
2676
Q1339:Symptoms of hypocortisolism?
2677
fasting hypoglycemia and fatigue;ACTH low;Corisol Low
2678
Q1340:Central Diabetes Insipidus;Causes?
2679
Car accident
2680
Q1341:Where is it made?
2681
Superoptic/Paraventricular Nucleus of hypothalamus
2682
Q1342:Where is ADH stored?
2683
Vassopressin (ADH) is stored in the posterior hypofisis
2684
Q1343:Signs and Symptoms of SIADH?
2685
-Thrist (polydypsia);- polyuria
2686
Q1344:Mechanisms of polyuria in DM?
2687
Osmotic Diuresis
2688
Q1345:Where is HMG CoA Synthase seen?
2689
Ketogenesis;Acetyl CoA ----> HMG CoA
2690
Q1346:What is involved in ketogenolysis (extrahepatic)?
2691
Hydroxybutyrate ----> Acetoacetate ---> Acetoacetyl CoA ---> Acetyl CoA ----> Citric Acid Cycle
2692
Q1347:What is perceived as fruity odor?
2693
Acetone in the blood;Seen in prolonged fasting
2694
Q1348:What amino acid is used in starvation?
2695
Alanine
2696
Q1349:How long does glycogen storages last when you are fasting?
2697
24 hours
2698
Q1350:When does protein degradation start?
2699
after 12-24 hours
2700
Q1351:How many days does it take for fat to become the predominant source of glucose?
2701
1 week is the breaking point
2702
Q1352:When is the highest fat source for glucose? Week? When are ketones at the highest level?
2703
After the 3rd week
2704
Q1353:G6PDH;Reactant and product
2705
Reactant: Glucose-6-P;Product: 6-phosphogluconate
2706
Q1354:G6PDH;cofactor
2707
NADP;(rxn: NADP ---> NADPH)
2708
Q1355:G6PDH;part of what pathway?
2709
Hexose monophosphate shunt
2710
Q1356:G6PDH;induced by
2711
insulin
2712
Q1357:G6PDH;activated by
2713
NADP (decrease in NADPH/NADP ratio)
2714
Q1358:G6PDH deficiency;inheritence
2715
XLR
2716
Q1359:G6PDH;major function
2717
Generate NADPH for anabolic purposes (EG: FA synthesis); antimicrobial killing and protection of cells from reactive oxygen species
2718
Q1360:Describe the role of NADPH in protecting against ROS (particularly in RBCs)
2719
NADPH reduces oxidized Glutathionine (G-S-S-G) back to its reduced form (2 GSH). GSH allows the enzyme Glutathionine peroxidase to breakdown H202
2720
Q1361:G6PDH deficiency;3 key features
2721
-immunodeficiency (in severe disease);- Heinz bodies;hemolytic anemia
2722
Q1362:G6PDH deficiency;stressors that can acute hemolytic anemia
2723
-ifn;-drugs (sulfas; chloroquine);-fava beans
2724
Q1363:G6PDH deficiency;Why can this condition lead to immunodeficiency?
2725
NAPDH oxidase generates bactericidal superoxide. NADPH deficiency inhibits this function.
2726
Q1364:CGD/NADPH deficiency;How can the diagnosis be confirmed
2727
a NEGATIVE nitroblue tetrazolium test
2728
Q1365:HMG CoA reductase;location
2729
ER
2730
Q1366:HMG CoA reductase;activated by?
2731
insulin
2732
Q1367:HMG CoA reductase;;enzyme ACTIVITY is inhibited by
2733
-glucagon;-statins
2734
Q1368:HMG CoA reductase;reaction
2735
HMG-CoA is converted to mevalonate
2736
Q1369:HMG CoA reductase;cholesterol effect on the enzyme
2737
Increased hepatic cholesterol represses expression and enhances degradation
2738
Q1370:HMG CoA reductase;How does inhibition by statin drugs decrease cholesterol levels?
2739
Inhibition by statins both decreases de novo synthesis and enhances hepatic clearence of serum cholesterol by increased LDLR expression
2740
Q1371:HMG CoA reductase;statins are _________ inhibitors
2741
competitive
2742
Q1372:DHFR;reaction it catalyzes
2743
Folate---->DHF--->THF
2744
Q1373:DHFR;eukaryotic inhibitior
2745
methotrexate
2746
Q1374:DHFR;prokaryotic inhibitors (2)
2747
-Trimethoprim;-pyrimethamine
2748
Q1375:DHFR;Most important downstream consequence of inhibition?
2749
A block of DHFR function ultimately prevent synthesis of thymidylate (thymidylate synthase is folate dependent)
2750
Q1376:how can ornithine transcarbamylase deficiency be distinguished from orotic aciduria
2751
OTCD has hyperammonia and low BUN;Orotic aciduria has a normal BUN
2752
Q1377:Orotic Aciduria;enzymatic causes
2753
- orotic acid phosphoribosyltransferase deficiency;OR;- OMP decarboxylase deficiency
2754
Q1378:UDP-Glucuronyl transferase;key reaction
2755
Bilirubin + glucoronide ----> bilirubin-diglucoronide
2756
Q1379:UDP-Glucuronyl transferase;significance in neonates
2757
UDP-Glucuronyl transferase is the last enzyme expressed in infants. Thus; neonates have increased susceptibility to jaundice and kernicterus
2758
Q1380:Dubin-Johnson syndrome;characterized by
2759
black pigment in the liver due to impaired excretion of direct bilirubin
2760
Q1381:Crigler-Najjar syndrome;define
2761
a severe UDP-Glucuronyl transferase deficiency
2762
Q1382:Gilbert Syndrome;define
2763
a benign UDP-Glucuronyl transferase deficiency
2764
Q1383:gamma-glutamyl carboxylase;rxn:
2765
glu -----> gamma gultamic acid
2766
Q1384:gamma-glutamyl carboxylase;function and substrate of this rxn:
2767
gamma carboxylation of factors II; VII; IX; X and Protein C&S generates Ca binding sites.
2768
Q1385:gamma-glutamyl carboxylase;dependent on?
2769
vit K
2770
Q1386:gamma-glutamyl carboxylase;inhibited by
2771
warfarin and dicoumarol
2772
Q1387:Warfarin;does this drug inhibit in vitro clotting?
2773
NO; warfarin's effect (vit K reductase inhibition) prvents in vivo clotting by blocking clotting factor synthesis but has no effect on existant factors.
2774
Q1388:gamma-glutamyl carboxylase;this reaction catalyzes what type of modification
2775
cotranslational modification of clotting factors
2776
Q1389:Homocysteine methyltranferase;rxn:
2777
homocysteine ---> methionine
2778
Q1390:Homocysteine methyltranferase;cofactors:
2779
-N5-methyl THF;-methylcobalamin (B12)
2780
Q1391:mild homocysteinuria is associated with deficiencies is what vitamins
2781
folate;B12;B6 (cystathionine synthase rxn)
2782
Q1392:mild homocysteinuria;symptoms
2783
-DVT;-stroke;-atherosclerosis
2784
Q1393:how can B12 deficiency be distinguished from folate deficiency?
2785
B12 deficiency is associated with methylmalonic aciduria
2786
Q1394:name the 3 "ABC" carboxylases
2787
(ATP; Biotin; Co2);-propionyl-CoA carboxylase;-acetyl-CoA carboxylase;-pyruvate carboxylase
2788
Q1395:Methylmalonyl-CoA mutase;rxn:
2789
Methylmalonyl-CoA ---> succinyl-CoA
2790
Q1396:Methylmalonyl-CoA mutase;cofactor:
2791
adeonsylcobalamin (B12)
2792
Q1397:Methylmalonyl-CoA mutase;deficiency results in:
2793
Methylmalonylic aciduria and peripheral neuropathy
2794
Q1398:Lesch-Nyhan Syndrome;inheritence:
2795
XLR
2796
Q1399:Lesch-Nyhan Syndrome;genetic cause:
2797
HGPRT deficiency
2798
Q1400:Lesch-Nyhan Syndrome;symptoms:
2799
-spastic cerebral palsy;-self-mutilation;-hyperuricemia;-early death
2800
Q1401:6-Mercaptopurine is activated by
2801
HGPRT
2802
Q1402:Lesch-Nyhan Syndrome;pathophysiology
2803
Loss of the salvage pathways results in shunting of Hypoxanthine and guanine to the excretion pathway;Furthermore; loss of feedback inhibition of PRPP admidotransferase results in additional purine synthesis;Thus; HGPRT deficiency leads to crippling excesses of urate
2804
Q1403:HGRPT;rxn:
2805
hypoxanthine/guanine -----> IMP/GMP
2806
Q1404:Branched-chain Ketoacid DH;cofactors:
2807
TPP;Lipoic acid;CoA;FAD;NAD
2808
Q1405:Branched-chain Ketoacid DH;critical in the metabolism of
2809
Valine;Leucine;Isoleucine
2810
Q1406:Branched-chain Ketoacid DH;associated disease:
2811
maple serup urine disease
2812
Q1407:maple serup urine disease;symptoms:
2813
-urine has a maple odor;-mental retardation;-abnormal muscle tone;-ketosis;-coma;death
2814
Q1408:name the substances that enter the propionyl-CoA pathway
2815
(VOMIT);Valine;Odd chain FA;Methionine;Isoleucine;Threonine
2816
Q1409:Pyruvate DH;cofactors
2817
TPP;Lipoic Acid;CoA;FAD;NAD
2818
Q1410:Pyruvate DH;rxn:
2819
pyruvate------> acetyl CoA
2820
Q1411:Pyruvate DH;deficient in what population (consequence)
2821
alcoholics due to thiamine deficiency (results in lactic acidosis)
2822
Q1412:Pyruvate DH;inhibited by
2823
acetyl-CoA
2824
Q1413:PKU;genetic causes
2825
phenylalanine hyxdroxylase deficiency;OR;tetrahydrobiopterin deficiency
2826
Q1414:Aspartame is contraindicated in what condition
2827
PKU
2828
Q1415:PKU;untreated symptoms
2829
-pale skin and white hair;-mental retardation;-loss of motor control;-musty; mousy odor
2830
Q1416:PKU;-pathophysiology
2831
elevated phenylalanine has a neurotoxic effect
2832
Q1417:Phenylalanine hydroxylase;rxn
2833
phe ---> tyrosine
2834
Q1418:MCAD;function
2835
oxidation of medium chain FA
2836
Q1419:MCAD deficiency;symptoms
2837
-fasting hypoglycemia;- NO KETONES;-C8-10 acyl carnitines in blood;-DICARBOXYLIC ACIDEMIA
2838
Q1420:Dicarboxylic acidemia is pathognomonic for
2839
MCAD deficiency
2840
Q1421:Topoisomerase II;inhibited by what drug class in prokaryotes
2841
#NAME?
2842
Q1422:Topoisomerase II;function
2843
relieves positive supercoiling during DNA replication by introducing negative supercoils
2844
Q1423:Topoisomerase II;target for what drugs in eukaryotes
2845
etoposide;teniposide
2846
Q1424:Excision endonuclease;function
2847
removal of intrastrand thymine dimers
2848
Q1425:Xerderma pigmentosum;defective gene
2849
excision endonuclease
2850
Q1426:Xerderma pigmentosum;symptoms
2851
extreme UV sensitivity;excessive freckling;multiple skin cancers;corneal ulcerations
2852
Q1427:Carbamoyl-P Synthetase (CPS-I) deficiency
2853
- urea cycle defect;- condition: type I hyperammonemia;metabolites accumulated: ammonia; glutamine; alanine
2854
Q1428:Ornithine transcarbamoylase (OTC) deficiency
2855
- urea cycle defect;- condition: type II hyperammonemia;metabolites accumulated: ammonia; glutamine; orotate
2856
Q1429:Argininosuccinate synthetase deficiency
2857
- urea cycle defect;- condition: citrullinemia;- metabolites accumulated: citrulline
2858
Q1430:Argininosuccinate lyase deficiency
2859
- urea cycle defect;- condition: argininosuccinic aciduria;metabolites accumulated: argininosuccinate
2860
Q1431:Arginase deficiency
2861
- urea cycle defect;- condition: hyperargininemia;- metabolites accumulated: arginine
2862
Q1432:Maple Syrup Urine Disease
2863
- AR defect in branched-chain ketoacid dehydrogenase;- high plasma & urine levels of branched-chain AA (leucine; valine; isoleucine) and their corresponding alpha-keto acids and alpha-hydroxyacids;- urine odor of maple syrup or burnt sugar;- brain damage
2864
Q1433:strictly ketogenic AA
2865
leu; lys;degraded tp acetyl-CoA or acetoacetyl-CoA --> both converted to ketone bodies
2866
Q1434:both ketogenic + glucogenic AA
2867
ile; phe; tyr; trp
2868
Q1435:strictly glucogenic AA
2869
all others
2870
Q1436:7 metabolic intermediates derived from AA
2871
acetyl-CoA;acetoacetyl-CoA;oxaloacetate;fumarate;succinylCoA;alpha-keto glutarate;propionyl-CoA (converted to succinyl-CoA)
2872
Q1437:AA that form pyruvate
2873
glycine; alanine; cysteine; serine; threonine; tryptophan
2874
Q1438:AA that form acetyl-CoA
2875
leucine; isoleucine
2876
Q1439:AA that form acetoacetyl-CoA
2877
leucine; lysine;phenylalanine; tryptophan; tyrosine
2878
Q1440:AA that form oxaloacetate
2879
asparagine; aspartate
2880
Q1441:AA that form fumarate
2881
tyrosine; phenylalanine
2882
Q1442:AA that form propionyl-CoA (then converted to succinyl-CoA)
2883
isoleucine; methionine; threonine; valine
2884
Q1443:AA that form glutamate (then converted to alphaketoglutarate)
2885
proline; arginine; histidine; glutamine
2886
Q1444:propionic aciduria
2887
2/2 deficiency of biotin; propionyl-CoA carboxylase; holocarboxylase synthase; or the enzyme that covalentloy attaches biotin to all carboxylases (in last case; additional organic acids accumulate)
2888
Q1445:methylmalonic aciduria
2889
2/2 deficiency in vitamin B12 or defect in methylmalonylCoA mutase;some pts respond well to megadose of vit B12
2890
Q1446:pyridoxal phosphate
2891
derivative of pyridoxine (vit B6);acts as coenzyme for all transaminases
2892
Q1447:CPS-1 activation
2893
high protein diet --> glutamate accumulation --> increase in NAG --> CPS-1 activation
2894
Q1448:arginase found only in
2895
brain; liver; kidney
2896
Q1449:amino groups in muscle
2897
transferred to pyruvate to form alanine --> dumped into circulation --> picked up by liver; where it is converted back to pyruvate
2898
Q1450:liver uses pyruvate for
2899
gluconeogenesis
2900
Q1451:liver uses amino groups for
2901
urea synthesis
2902
Q1452:phenylketonuria (PKU)
2903
deficiency in phenylalanine hydroxylase or dihydrobiopterin reductase;buildup of phenylalanine; phenylpyruvate; phenylacetate; phenyllactate in blood and urine;**tyrosine becomes an essential AA**
2904
Q1453:PKU Sx
2905
musty body odor;MR
2906
Q1454:dihydrobiopterin reductase deficiency
2907
PKU + impairment of catecholamine and serotonin synthesis
2908
Q1455:PKU Tx
2909
remove phenylalanine from diet (incl NutraSweet)
2910
Q1456:NutraSweet
2911
dipeptide containing phenylalanine + aspartic acid
2912
Q1457:precursor for tyrosine
2913
phenylalanine
2914
Q1458:sulfur for cysteine synthesis comes from
2915
methionine
2916
Q1459:if phenylalanine deficient in diet
2917
tyrosine becomes essential AA
2918
Q1460:if methionine essential in diet
2919
cysteine becomes essential AA
2920
Q1461:elevated plasma homocysteine is risk factor for
2921
coronary heart disease;independent of risk associated with elevated cholesterol
2922
Q1462:homocystinuria
2923
large amts. homocystine in urine;acquired or inherited;most often seen in children with FTT; lens displacement
2924
Q1463:causes of homocystinuria
2925
deficiency in pyridoxine; folate; or vitamin B12;OR;inherited defect in either cystathionine synthase or methionine synthase;all above result in accumulation of homocysteine; which is readily oxidized to its disulfide form; homocystine
2926
Q1464:homocystine
2927
disulfide form of homocysteine
2928
Q1465:cysthathionuria
2929
2/2 deficiency in pyridoxine or from genetic defect in cystathionase;large amts. cystathionine found in urine + blood
2930
Q1466:Parkinson dz: cause
2931
decreased dopamine in substantia nigra
2932
Q1467:Parkinson prevalence
2933
1% of pop > 55yrs
2934
Q1468:Parkinson Sx
2935
tremors; postural instability; rigidity; bradykinesia
2936
Q1469:Parkinson Tx
2937
L-dopa + carbidopa
2938
Q1470:Carbidopa
2939
decreases extra-CNS effects of L-dopa;selectively inhibits aromatic acid decarboxylase outside CNS;does not cross BBB so does not inhibit conversion of L-dopa --> dopamine
2940
Q1471:carcinoid tumors
2941
neoplastic transformation of enterochromaffin cells;secrete excess serotonin;high levels of 5-HI in urine
2942
Q1472:nitroglycerin and other angina tx
2943
act in part to spontaneously generate nitric oxide
2944
Q1473:porphyria
2945
any abnormality in pathway of heme synthesis;block early in pathway: intermediates buildup & are excreted in urine;block late in pathway: excreted in urine + feces; accumulate in skin
2946
Q1474:lead poisoning and heme synthesis
2947
lead poisoning can be considered acquired porphyria b/c inhibits ALA DEHYDRATASE and HEME SYNTHASE (FERROCHELATASE)
2948
Q1475:4 broad causes of hyperbilirubinemia
2949
massive hemolysis;block in heme catabolism;bile obstruction;liver damage;always jaundice
2950
Q1476:anabolism
2951
build stuff (need energy)
2952
Q1477:What a.a. is the smallest?
2953
Glycine
2954
Q1478:What a.a. is involved in gluconeogenesis?
2955
Alanine
2956
Q1479:What a.a. are branched?
2957
Valine;Leucine;Isoleucine;I Saw Lucy and Val(erie) Like syrup
2958
Q1480:What a.a. bends proteins?
2959
Proline
2960
Q1481:What a.a. is converted to tyrosine?
2961
Phenylalanine
2962
Q1482:What is made with Tyrosine? 3 things;
2963
1) Catecholamines (NE; Epi);2) Thyroid T3/T4;3) Melanin
2964
Q1483:What causes Hartnup Dz?
2965
Tryptophan ;tryp up the esophagus
2966
Q1484:What coenzyme is needed to degrade tryptophan?
2967
Niacin
2968
Q1485:What deffect do you see when you have Niacin defiency?
2969
Pellagra
2970
Q1486:What are the symptoms of pellagra?
2971
Diarrhea;Dermatitis;Dementia
2972
Q1487:What are the basic a.a.?
2973
HAL;Histidine;Alaline;Lysine
2974
Q1488:What two a.a. are acidic?
2975
Aspartate;Glutamate;aspartic acid; glutamic acid
2976
Q1489:What a.a. have OH in htem?
2977
Serine;Threonine
2978
Q1490:Valine is a branched a.a. what happens glutamate is changed to val?;glutamate ----> valine
2979
Sickle Cell Anemia;Missense mutation;anemia sickle
2980
Q1491:What happens when there is a deletion of phenylalanine at position 508?
2981
Cystic Fibrosis;Chromosome seven;problem in folding proteins
2982
Q1492:Why is cysteine important?
2983
Because it produces S-thiol and is the Tx for Acetaminophen Toxicity;NO+ guanylate cyclase increasing cGMP
2984
Q1493:Why is methionine important?
2985
Makes AUG; SAM;initiate transcription;methylates in SAM
2986
Q1494:WHat is asparagine famous for?
2987
N.glycosylation in E.R. mannose to protein
2988
Q1495:WHat is glutamine used for?
2989
NH3 donor;Amonia
2990
Q1496:WHat a.a. is need in positve nitrogen balance?
2991
Arginine
2992
Q1497:When does positive nitrogen balance occur?
2993
Growth;Pregnancy;Recovery from injury or surgery;Recovery from Negative Nitrogen Balance
2994
Q1498:When does negative nitrogen balance?
2995
Protein Malnutrition (Kwashiorkor);Starvation (Marasmus);DM uncontrolled;Infection;Diet Defficient of essential a.a.
2996
Q1499:What is the enzyme deficiency in Von Gierke's disease (Type I)?
2997
Glucose-6-phosphatase
2998
Q1500:What is the enzyme deficiency in Pompe's disease (Type II)?
2999
Lysosomal alpha-1;4-glucosidase
3000
Q1501:What is the enzyme deficiency in Cori's disease (Type III)?
3001
Debranching enzyme alpha-1;6-glucosidase
3002
Q1502:What is the enzyme deficiency in McArdle's disease (Type V)?
3003
Skeletal muscle glycogen phosphorylase
3004
Q1503:What is the enzyme deficiency in Andersen's disease (Type IV)?
3005
Glycogen branching enzyme amylo-1;4-1;6-transglucosidase
3006
Q1504:What is the enzyme deficiency in Tarui's disease (Type VII)?
3007
Skeletal muscle PFK-1
3008
Q1505:What are the findings in Von Gierke's disease (Type I) (6)?
3009
Severe fasting hypoglycemia;Increased glycogen in liver;Thin extremities; chubby facies;Fatty liver;Renal disease;Growth retardation; delayed puberty
3010
Q1506:What are the findings in Pompe's disease (Type II) (4)?
3011
Cardiomegaly;Early death;Normal blood glucose;"Trashes the pump" (heart; liver; muscle)
3012
Q1507:What are the findings in Cori's disease (Type III) (3)?
3013
Hypoglycemia;Failure to thrive;Hepatomegaly
3014
Q1508:What are the findings in McArdle's disease (Type V) (3)?
3015
Increased glycogen in muscle (can't break it down);Paimful cramps;No rise in lactate w/ exercise
3016
Q1509:What are the findings in Tarui's disease (Type VII) (4)?
3017
Like McArdle's;Nausea and vomiting;Acute exacerbation after high-carb meal;Hyperuricemia and hyperbilirubinemia
3018
Q1510:What are the findings in Andersen's disease (Type IV) (4)?
3019
Glycogen with unbranched chains in tissue;Resembles amylopectin;Failure to thrive;Hepatosplenomegaly
3020
Q1511:How do you treat Von Gierke's disease (Type I)?
3021
Nocturnal glucose; uncooked corn starch
3022
Q1512:What is/are the MAJOR REGULATORY ENZYME of the citric acid cycle?
3023
Citrate synthase
3024
Q1513:What is/are the MAJOR REGULATORY ENZYME of glycolysis?
3025
Phosphofructokinase-1
3026
Q1514:What is/are the MAJOR REGULATORY ENZYME of pyruvate oxidation?
3027
Pyruvate dehydrogenase
3028
Q1515:What is/are the MAJOR REGULATORY ENZYMES of gluconeogenesis (3)?
3029
Pyruvate carboxylase;Phosphoenolpyruvate carboxykinase;Fructose-1;6-bisphosphatase
3030
Q1516:What is/are the MAJOR REGULATORY ENZYME of glycogenesis?
3031
Glycogen synthase
3032
Q1517:What is/are the MAJOR REGULATORY ENZYME of glycogenolysis?
3033
Glycogen phosphorylase
3034
Q1518:What is/are the MAJOR REGULATORY ENZYME of the pentose phosphate pathway?
3035
3036
Q1519:What is/are the MAJOR REGULATORY ENZYME of cholesterol synthesis?
3037
HMG-CoA reductase
3038
Q1520:What is/are the MAJOR REGULATORY ENZYME of lipogenesis?
3039
Acetyl-CoA carboxylase
3040
Q1521:What are the major ACTIVATORS of phosphofructokinase-1 (3)?
3041
AMP;Fructose-2;6-bisphosphate (liver);Fructose-1;6bisphosphate (muscle)
3042
Q1522:What are the major ACTIVATORS of pyruvate dehydrogenase (4)?
3043
CoA;NAD;ADP;Pyruvate
3044
Q1523:What is the major ACTIVATOR of pyruvate carboxylase and phosphoenolpyruvate carboxykinase?
3045
Acetyl-CoA
3046
Q1524:What is the major ACTIVATOR of fructose-1;6bisphosphatase?
3047
cAMP
3048
Q1525:What are the major ACTIVATORS of glycogen phosphorylase (2)?
3049
cAMP;Ca2+ (muscle)
3050
Q1526:What is the major ACTIVATOR of glucose-6phosphate dehydrogenase?
3051
NADP+
3052
Q1527:What is the major ACTIVATOR of acetyl-CoA carboxylase
3053
Citrate
3054
Q1528:What are the INHIBITORS of citrate synthase (2)?
3055
ATP;Long-chain acyl-CoA
3056
Q1529:What are the INHIBITORS of phosphofructokinase-1 (3)?
3057
Citrate (fatty acids; ketone bodies);ATP;cAMP
3058
Q1530:What are the INHIBITORS of pyruvate dehydrogenase (3)?
3059
Acetyl-CoA;NADH;ATP (fatty acids; ketone bodies)
3060
Q1531:What is the INHIBITOR of pyruvate carboxylase and phosphoenolpyruvate carboxykinase?
3061
ADP
3062
Q1532:What are the INHIBITORS of fructose-1;6bisphosphatase (2)?
3063
AMP;Fructose-2;6-bisphosphatase
3064
Q1533:What are the INHIBITORS of glycogen synthase (3)?
3065
Phosphorylase (liver);cAMP (muscle);Ca2+ (muscle)
3066
Q1534:What is the INHIBITOR of glucose-6-phosphate dehydrogenase?
3067
NADPH
3068
Q1535:What are the INHIBITORS of acetyl-CoA carboxylase (2)?
3069
Long-chain acyl-CoA;cAMP
3070
Q1536:What are the INHIBITORS of HMG-CoA reductase (2)?
3071
Cholesterol;cAMP
3072
Q1537:What two rate-limiting enzymes are INHIBITED by long-chain acyl-CoA?
3073
Citrate synthase;Acetyl-CoA carboxylase
3074
Q1538:What two rate-limiting enzymes are ACTIVATED by cAMP?
3075
Fructose-1;6-bisphosphatase;Glycogen phosphorylase
3076
Q1539:What is Type I Familial Dyslipidemia?
3077
hyperchylomicronemia
3078
Q1540:What is Type IIa Familial Dyslipidemia?
3079
hypercholesterolemia
3080
Q1541:What is Type IIb Familial Dyslipidemia?
3081
combined hyperlipidemia
3082
Q1542:What is Type III Familial Dyslipidemia?
3083
dysbetalipoproteinemia
3084
Q1543:What is Type IV Familial Dyslipidemia?
3085
hypertriglyceridemia
3086
Q1544:What is Type V Familial Dyslipidemia?
3087
mixed hypertriglyceridemia
3088
Q1545:What is the INHERITANCE of Type IIa Familial dyslipidemia? (hypercholesterolemia)
3089
autosomal dominant
3090
Q1546:What is INCREASED in Type I Familial Dyslipidemia?
3091
chylomicrons
3092
Q1547:What is INCREASED in Type IIa Familial Dyslipidemia (hypercholesterolemia)?
3093
LDL
3094
Q1548:What is INCREASED in Type Iib Familial Dyslipidemia (combined hyperlipidemia)?
3095
LDL; VDL
3096
Q1549:What is INCREASED in Type III Familial Dyslipidemia (dysbetalipoproteinemia)?
3097
IDL; VLDL
3098
Q1550:What is INCREASED in Type IV Familial Dyslipidemia (hypertriglyceridemia)?
3099
VLDL
3100
Q1551:What is INCREASED in Type V Familial Dyslipidemia (mixed hypertriglyceridemia)?
3101
VLDL; chylomicrons
3102
Q1552:Type I hyperchylomicronemia ELEVATED BLOOD LEVELS?
3103
TG; cholesterol
3104
Q1553:Type IIa hypercholesterolemia ELEVATED BLOOD LEVELS?
3105
cholesterol
3106
Q1554:Type IIb combined hyperlipidemia ELEVATED BLOOD LEVELS?
3107
TG; cholesterol
3108
Q1555:Type III dysbetalipoproteinemia ELEVATED BLOOD LEVELS?
3109
TG; cholesterol
3110
Q1556:Type IV hypertriglyceridemia ELEVATED BLOOD LEVELS?
3111
TG
3112
Q1557:Type V mixed hypertriglyceridemia ELEVATED BLOOD LEVELS?
3113
TG; cholesterol
3114
Q1558:Type I hyperchylomicronemia PATHOPHYSIOLOGY?
3115
Lipoprotein lipase deficiency; or altered apolipoprotein C-II (co-factor for lipoprotein lipase)
3116
Q1559:Type IIa hypercholesterolemia PATHOPHYSIOLOGY?
3117
DECREASE LDL receptors
3118
Q1560:Type IIb combined hyperlipidemia PATHOPHYSIOLOGY?
3119
hepatic OVERPRODUCTION of VLDL
3120
Q1561:Type III dysbetalipoproteinemia PATHOPHYSIOLOGY?
3121
ALTERED apolipoprotein E
3122
Q1562:Type IV hypertriglyceridemia PATHOPHYSIOLOGY?
3123
hepatic OVERPRODUCTION of VLDL
3124
Q1563:Type V mixed hypertriglyceridemia PATHOPHYSIOLOGY?
3125
INCREASE production/DECREASE clearance of VLDL and chylomicrons
3126
Q1564:Vit A too much
3127
arthralgias; fatigue; headache; skin changes; sore throat; alopecia
3128
Q1565:dry beriberi
3129
polyneuritis; muscle wasting
3130
Q1566:wet beriberi
3131
dilated cardiomyopathy; edema
3132
Q1567:B2 deficiency
3133
angular stomatitis; cheilosis; corneal vascularization
3134
Q1568:B3 deficiency
3135
pellagra; diarrhea; dermatitis; dementia; beefy glossitis.
3136
Q1569:causes of pellegra
3137
hartnup disease (dec tryptophan absorbtion); malignant carcinoid syndrome (increased trypophan metabolism); and INH (decreased B6)
3138
Q1570:B5 deficiency
3139
dermatitis; enteritis; alopecia; adrenal insufficiency.
3140
Q1571:B6 deficiency
3141
convulsions; hyperirritability; peripheral neuropathy.
3142
Q1572:Sources of B6 deficiency
3143
INH; oral contraceptives.
3144
Q1573:B12 function
3145
Homocysteine + N-methyl THF (B12) to Methionine + THF; Methylmalonyl-CoA (B12) to Succinyl-CoA
3146
Q1574:causes of B12 defiency
3147
malabsorption (sprue; enteritis; Diphyllobothrium latum); lack of IF (pernicious anemia); or absence of terminal ileum (chron's)
3148
Q1575:folic acid precursor in bacteria and use
3149
PABA - sulfa drugs and dapsone are PABA analogs.
3150
Q1576:biotin deficiency
3151
dermatitis; enteritis
3152
Q1577:causes of biotin defiency
3153
antibiotic use; ingestion of raw eggs
3154
Q1578:vit c deficiency
3155
scurvy - swollen gums; bruising; anemia; poor wound healing.
3156
Q1579:vit c 3 mech
3157
hydroxylation of proline and lysine in collagen synthesis; facilitates iron absorption by keeping iron in Fe+2 reduced state; necessary as a cofactor for Dopamine to NE
3158
Q1580:Types of Vit D
3159
D2 - ergocalciferol; in milk; D3 - cholecalciferol; sun exposed skin; 25-OH D3 - storage form; 1;25 (OH)2 D3 active form.
3160
Q1581:Vit D def
3161
Rickets kids (bending bones); osteomalacia in adults (soft bones) and hypocalcemic tenatny
3162
Q1582:Vit D function
3163
increases Ca and Phosphate aborption.
3164
Q1583:Vit D excess
3165
Hypercalcemia; loss of appetitie; stupor. Sarcoid - epitheliod macrophages convert Vit D into its active form.
3166
Q1584:Vit E def
3167
increases fragility of EEErythrocytes; neurodysfunction
3168
Q1585:Vit E function
3169
antioxidant (protects erythrocytes from hemolysis.
3170
Q1586:sxs and causes of Vit K def
3171
neonatal hemorrhage with increased PT/aPTT but normal bleeding times - sterile intestine cant make Vit K
3172
Q1587:Vit K dependent factors
3173
2;7;9;10
3174
Q1588:Vit K antagonist
3175
warfarin
3176
Q1589:Vit K function
3177
Catalyzes (gamma)-carboxylation of glutamic acid residues on various proteins concerned with blood clotting.
3178
Q1590:Zinc deficiency
3179
Delayed wound healing; hypogonadism; dec adult hair; may predispose to alcoholic cirrhosis.
3180
Q1591:ETOH metabolism
3181
ETOH (alcohol dehydrogenase) to acetaldehyde (acetaldehyde dehydrogenase) to acetate. Both require NAD+ which goes to NADH
3182
Q1592:ETOH met rate limiting reagent
3183
NAD+
3184
Q1593:alcohol dehydrogenase kinetics
3185
zero order
3186
Q1594:Antabuse mech
3187
inhibits acetaldehyde dehydrogenase
3188
Q1595:EtOH hypoglycemia
3189
ETOH metabolism increases NADH/NAD+ ratio in liver pyruvate to lactate and OAA to malate - inhibits gluconeogensis and thus hypoglycemia - fatty acid synthesis hepatocellular steatosis (hepatic fatty change)
3190
Q1596:Kwashiorkor
3191
MEAL - malabsorption; edema; anemia; liver (fatty) - protein malnutrition
3192
Q1597:Marasmus
3193
energy malnutrition - tissue and muscle wasting; loss of subcut fat; variable edema
3194
Q1598:Von Gierke's disease;Deficient enzyme
3195
glucose-6-phosphatase
3196
Q1599:Von Gierke's disease;Findings
3197
Type I glycogen storage disease;Severe fasting hypoglycemia; increased glycogen in liver; increased blood lactate; hepatomegaly
3198
Q1600:Pompe's disease;Deficient enzyme
3199
Lysosomal alpha-1-4-glucosidase (acid maltase)
3200
Q1601:Pompe's disease;Findings
3201
Type II glycogen storage disease;Cardiomegaly and systemic findings leading to early death;Pompe's trashes the Pump (heart; liver and muscle)
3202
Q1602:Cori's disease;Deficient enzyme
3203
Debranching enzyme; alpha-1;6-glucosidase
3204
Q1603:Cori's disease;Findings
3205
milder form of type I (Von Gierke's disease) with normal blood lactate levels;Gluconeogenesis is intact
3206
Q1604:McArdle's disease;Deficient enzyme
3207
Skeletal muscle glycogen phosphorylase
3208
Q1605:McArdle's disease;Findings
3209
increased glycogen in muscle; but cannot break it down; leading to painful muscle cramps; myoglobinuria with strenuous exercise;McArdles: think MUSCLE
3210
Q1606:Fabry's disease;Deficient enzyme
3211
Sphingolipidoses;alpha-galactosidase A;X-linked recessive!!!
3212
Q1607:Fabry's disease;accumulated substrate
3213
ceramide trihexoside;X-linked recessive!!!
3214
Q1608:Fabry's disease;Findings
3215
peripheral neuropathy of hands/feet; angiokeratomas; cardiovascular/renal disease;X-linked recessive!!!
3216
Q1609:Gaucher's disease;Deficient enzyme
3217
beta-glucocerebrosidase!!;AR
3218
Q1610:Gaucher's disease;Accumulated substrate
3219
Glucocerebroside
3220
Q1611:Gaucher's disease;Findings
3221
AR!!;hepatosplenomegaly; aseptic necrosis of the femur; bone crises; Gaucher's cells (macrophages that look like crumpled paper)
3222
Q1612:Niemann-Pick disease;Deficient enzyme
3223
Sphingomyelinase
3224
Q1613:Niemann-Pick disease;Accumulated substrate
3225
Sphingomyelin;AR
3226
Q1614:Niemann-Pick disease;Findings
3227
progressive neurodegeneration; hepatosplenomegaly; cherryred-spot (on macula); foam cells;AR!
3228
Q1615:Tay-Sachs disease;Deficient enzyme
3229
hexosaminidase
3230
Q1616:Tay-Sachs disease;Accumulated substrate
3231
GM2 ganglioside;AR
3232
Q1617:Tay-Sachs disease;Findings
3233
progressive neurodegeneration; developmental delay; cherryred spot; lysosomes with onion skin!!
3234
Q1618:Krabbe's disease;Deficient enzyme
3235
Galactocerebrosidase;AR
3236
Q1619:Krabbe's disease;Accumulated substrate
3237
galactocerebroside
3238
Q1620:Krabbe's disease;Findings
3239
peripheral neuropathy; developmental delay; optic atrophy; globoid cells
3240
Q1621:Metachromic leukodystrophy;Deficient enzyme
3241
Arylsulfatase A
3242
Q1622:Metachromic leukodystrophy;Accumulated substrate
3243
Cerebroside sulfate
3244
Q1623:Metachromic leukodystrophy;Findings
3245
Central and peripheral demyelination with ataxia; dementia
3246
Q1624:Mucopolysaccharidoses
3247
Hurler's syndrome and Hunter's syndrome
3248
Q1625:Hurler's syndrome;Deficient enzyme
3249
alpha-L-iduronidase
3250
Q1626:Hurler's syndrome;accumulated substrate
3251
heparan sulfate; dermatan sulfate
3252
Q1627:Hurler's syndrome;Findings
3253
developmental delay; gargoylism; airway obstruction; corneal clouding; hepatosplenomegaly
3254
Q1628:Hunter's syndrome;Deficient enzyme
3255
Mucopolysaccharidoses;iduronate sulfatase
3256
Q1629:Hunter's syndrome;Accumulated substrate
3257
heparan sulfate; dermatan sulfate
3258
Q1630:Hunter's syndrome;Findings
3259
XR!!!;mild-Hurler's (developmental delay; gargoylism; airway obstruction; corneal clouding; hepatosplenomegaly) with aggressive behavior; NO corneal clouding
3260
Q1631:What are the FINDINGS in Fabry's disease?
3261
1. peripheral neuropathy of hands/feet;2. angiokeratomas;3. cardiovascular/renal disease
3262
Q1632:What are the FINDINGS in Gaucher's disease?
3263
1. hepatosplenomegaly;2. asceptic necrosis of femur;3. bone crises;4. Gaucher's cells (macrophages)
3264
Q1633:What are the FINDINGS in Niemann-Pick disease?
3265
1. progressive neurodegeneration;2. hepatosplenomegaly;3. cherry red spot (on macula)
3266
Q1634:What are the FINDINGS in Tay-Sachs disease?
3267
1. progressive neurodegeneration;2. developmental delay;3. cherry-red spot;4. lysozymes with onion skin
3268
Q1635:What are the FINDINGS in Krabbe's disease?
3269
1. peripheral neuropathy;2. developmental delay;3. optic atrophy
3270
Q1636:What are the FINDINGS in Metachromatic leukodystrophy disease?
3271
1. Central and peripheral demyelination;2. ataxia;3. dementia
3272
Q1637:What are the FINDINGS in Hurler's Syndrome?
3273
1. Developmental delay;2. gargoylism;3. airway obstruction;4. corneal clouding;5. hepatosplenomegaly
3274
Q1638:What are the FINDINGS in Hunter's Syndrome?
3275
1. aggressive behavior;2. NO corneal clouding;3. Mild Hurler's;4. developmental delay;5. gargoylism;6. airway obstruction;7. hepatosplenomegaly
3276
Q1639:What is the DEFICIENT ENZYME in Fabry's disease?
3277
alpha-galactosidase A
3278
Q1640:What is the DEFICIENT ENZYME in Gaucher's disease?
3279
beta-glucocerebrosidase
3280
Q1641:What is the DEFICIENT ENZYME in Niemann-Pick disease?
3281
sphingomyelinase;"NO MAN PICKS (NIEMANN-PICK) his nose with his SPHINGER (SPHINGOMYELINASE)."
3282
Q1642:What is the DEFICIENT ENZYME in Tay-Sach's disease?
3283
Hexosaminidase A;;"Tay-SaX (TAY-SACHS) lacks heXosaminidase."
3284
Q1643:What is the DEFICIENT ENZYME in Krabbe's disease?
3285
beta-galactosidase
3286
Q1644:What is the DEFICIENT ENZYME in Metachromatic Leukodystrophy disease?
3287
Arylsulfatase A
3288
Q1645:What is the DEFICIENT ENZYME in Hurler's syndrome?
3289
alpha-L-iduronidase
3290
Q1646:What is the DEFICIENT ENZYME in Hunter's syndrome?
3291
Iduronate sulfatase
3292
Q1647:What is the ACCUMULATED SUBSTRATE in Fabry's disease?
3293
Ceramide trihexoside
3294
Q1648:What is the ACCUMULATED SUBSTRATE in Gaucher's disease?
3295
glucocerebroside
3296
Q1649:What is the ACCUMULATED SUBSTRATE in Niemann-Pick disease?
3297
Sphingomyelin
3298
Q1650:What is the ACCUMULATED SUBSTRATE in Tay-Sachs disease?
3299
GM2 ganglioside
3300
Q1651:What is the ACCUMULATED SUBSTRATE in Krabbe's disease?
3301
Galactocerebroside
3302
Q1652:What is the ACCUMULATED SUBSTRATE in Metachromatic Leukodystrophy?
3303
Cerebroside sulfate
3304
Q1653:What is the ACCUMULATED SUBSTRATE in Hurler's syndrome?
3305
1. Heparan sulfate;2. Dermatan sulfate
3306
Q1654:What is the ACCUMULATED SUBSTRATE in Hunter's syndrome?
3307
1. Heparan sulfate;2. Dermatan sulfate
3308
Q1655:What is the INHERITANCE of Fabry's disease?
3309
XLR
3310
Q1656:What is the INHERITANCE of Gaucher's disease?
3311
AR
3312
Q1657:What is the INHERITANCE of Niemann-Pick disease?
3313
AR
3314
Q1658:What is the INHERITANCE of Tay Sach's disease?
3315
AR
3316
Q1659:What is the INHERITANCE of Krabbe's disease?
3317
AR
3318
Q1660:What is the INHERITANCE of Metachromatic Leukodystrophy disease?
3319
AR
3320
Q1661:What is the INHERITANCE of Hurler's syndrome?
3321
AR
3322
Q1662:What is the INHERITANCE of Hunter's syndrome?
3323
XLR;;"HUNTERS aim for the X";(XLR)
3324
Q1663:What lysosomal storage dz has renal failure?
3325
Fabry
3326
Q1664:What lysosomal dz has optic atrophy; spasticity and early death?
3327
Krabbe
3328
Q1665:Lysosomal Dz that is compatible with a normal life usually?
3329
Gaucher's Dz
3330
Q1666:Lysosomal Dz w/ increase in sphingomyelin and cholesterol in reticuloendothelial and parenchymal cells?
3331
Niemann-Pick Dz
3332
Q1667:What lysosomal Dz has cherry-red spot on macula?
3333
Tay-Sachs Dz;Take them in the Sack (the cherries)
3334
Q1668:What lysosomal Dz has accumulation of sulfatide in brain; kidney; liver and peripheral nerves?
3335
Metachromatic Leukodystrophy
3336
Q1669:What enzyme is deficient in Fabry's Dz?
3337
alfa-galactosidase
3338
Q1670:What accumulates in Fabry's Dz?
3339
ceramide trihexoside
3340
Q1671:What mode of inheritane is Fabry's Dz?
3341
X-linked
3342
Q1672:What enzyme is deficient in Krabbe's?
3343
beta-galactosidase
3344
Q1673:What accumulates in Krabbe?
3345
beta-galactocerebroside
3346
Q1674:What enzyme is deficient in Krabbe?
3347
beta-galatosidase
3348
Q1675:What enzyme is deficient in Gaucher's Dz?
3349
beta-Glucocerebrosidase
3350
Q1676:What accumulates in Gaucher's?
3351
glucocerebroside
3352
Q1677:What enzyme is deficient in Niemann-Pick?
3353
Sphyngomyelinase
3354
Q1678:What accumulates in Neimann-Pick's?
3355
sphingomyelin and cholesterol
3356
Q1679:What enzyme is deficient in Tay-Sachs?
3357
Hexosaminidase A
3358
Q1680:WHat accumulates in Tay-Sach's Dz?
3359
GM2 ganglioside
3360
Q1681:What enzyme is deficient in Metachromatic Leukodystrophy?
3361
ArylSulfatase A
3362
Q1682:What accumulates in Metachromatic Leukodystrophy?
3363
Sulfatide
3364
Q1683:What enzyme is deficient in Hurler's Sx?
3365
alpha-L-iduronidase
3366
Q1684:What accumulates in Hurler's Sx?
3367
Increase in dermatan sulfate
3368
Q1685:What enzyme is deficient in Hunter's?
3369
iduronate sulfatase
3370
Q1686:What accumulates in Hunter's?
3371
Heparan Sulfate
3372
Q1687:What are the two Lysosomal Storage Dz that are Xlinked?
3373
Fabry's X and Hunter's X
3374
Q1688:What lysosomal Dz has corneal clouding and mental retardation?
3375
Hurler's Sx
3376
Q1689:What lysosomal Dz has mild mental retardation?
3377
Hunter's Sx;the hunter needs to see what he is shooting; So NO corneal clouding;
3378
Q1690:What lysosomal Dz has gargoyle facies?
3379
Hurler's Dz
3380
Q1691:What lysosomal dz has flaring of the distal femur? (Like Erlehnmeyer Flask)
3381
Gaucher's Dz
3382
Q1692:What two lysosomal Dz are associated with Jews?
3383
Tay-Sach's and Gaucher's Dz
3384
Q1693:Hormones dived into?
3385
Water soluble;Lipid Soluble
3386
Q1694:Water solubles have receptor where?
3387
Membrane Receptor
3388
Q1695:WHere is the receptor in lipid soluble hormones?
3389
Inside the cell
3390
Q1696:What hormones require phosphorylation?
3391
Water Soluble
3392
Q1697:How is gene expression controlled in Water Soluble?
3393
cAMP response element binding (CREB) protein
3394
Q1698:What proteins are used in Water Soluble Hormones?
3395
Leucine Zipper
3396
Q1699:What protein is used for Lipid Soluble Hormones?
3397
Zinc Finger Protein
3398
Q1700:What are the water soluble hormones?
3399
Insulin ;Glucagon;Catecholamines (NE; EPi)
3400
Q1701:What are examples of lipid soluble?
3401
Steroids;Calcitriol ---> Vit D;Thyroxines (thinks is steroid);Retinoic Acid ----> Vit A.
3402
Q1702:What do you think of with watersoluble hormones?
3403
Male;Receptor Outside (penis);Zipper (Leucine Zipper)
3404
Q1703:WHat do you think of with Lipid Soluble hormones?
3405
Female;Receptor Inside;Zinc Finger Protein
3406
Q1704:What receptors use Glucagon and Epinephrine?
3407
cAMP pathway
3408
Q1705:What are all the messenger involved in cAMP?
3409
Gs Adenylate Cyclase ----> Protein Kinase ;Gi alpha2 beta2 2MAD
3410
Q1706:What are pathway is used in Vasopressin and Epinephrine (alpha 1)?
3411
PIP2;PIMP
3412
Q1707:Gq involves?
3413
HAMMV (hummer);Gq magazine;Think C or K;Phospholipase C;Protein kinase C;DAG; IP3; Ca+
3414
Q1708:What pathway does Atrial Natriuretic Factor (ANF) and Nitric Oxide (NO) use?
3415
cGMP
3416
Q1709:What pathway does Insulin use?
3417
INsulin; growth factors ;via Tyrosine Kinase
3418
Q1710:What do you see in the PIMP system? (PIP2)
3419
Gq magazine;Cicis; C C C;Phospholipase C;Protein Kinase C;Ca+
3420
Q1711:Who activates the Ca+ release in the Endoplasmic Reticulum E.R.?
3421
IP3 activates Ca+ release
3422
Q1712:What does Ca+ activates what in the PIP2 system?
3423
Protein Kinase C
3424
Q1713:What membrane enzyme is used in the ANF or NO?
3425
Guanylate Cyclase
3426
Q1714:If you want to;
3427
Use Guanylate Cyclase
3428
Q1715:Guanylate cyclase activates what?
3429
cGMP ;G is nice to get some;
3430
Q1716:cGMP activates what?
3431
Protein Kinase G
3432
Q1717:What does Protein Kinase G do?
3433
Relaxes Smooth Muscle;;Relax and ENjoy the RIDE!
3434
Q1718:Where is nitrous oxide found?
3435
Heme membrane
3436
Q1719:HOw does insulin activate hormone receptors?
3437
Via Tyrosine Kinase
3438
Q1720:WHat do you find in the membrane for Insulin?
3439
Two beta subunits;cross membrane;;2 membrane helix span;unlike ANF that has 1 membrane helix span
3440
Q1721:What is unique about the cAMP and PIP2 system?
3441
THey both have a 7 membrane helix span receptor
3442
Q1722:What enzyme of the hormone receptor has only 1 membrane span?
3443
ANF;guanylate cyclase
3444
Q1723:What hormone receptor has 2 membrane helix span?
3445
INsulin;Tyrosine Kinase
3446
Q1724:Where does Nitrous Oxide (NO) come from? a.a.?
3447
Arginine
3448
Q1725:What are some drugs that increase NO?
3449
nitroprusside;Nitroglycerine;Isosorbide dinitrate;Viagra (Sildenafil);Agina
3450
Q1726:Where is glut 4 found?
3451
Adipose;Muscle;Not Liver Glut-1
3452
Q1727:What happens if there is a mutation that increases G protein?
3453
Oncogenic;activation of ras (p21 monomeric);gsp (G2 alpha)
3454
Q1728:What is involved in the p21ras oncogene?
3455
Colon;Lung;Breast;Bladder ;ALL TUMORS!!!;liked to Tyrosine Kinase;G protein!!!
3456
Q1729:WHat is the mechanism for glucocorticods to cause DM?
3457
They increase PEPCK activity via response elements causing increase gluconeogenesis;increase in glucose---> DM;via Zinc Finger Proteins
3458
Q1730:Which enzyme does Insulin activate in glucose related metabolism?
3459
Glycogen Synthase;glucose is stored;glycogen is made;you are in a well-fed state;just ate
3460
Q1731:Which enzyme is activated when glucagon is present?
3461
Glycogen Phosphorylase is activated;degrages glycogen ---> glucose;increase the release of glucose;you are starving
3462
Q1732:TCA cycle intermediates
3463
Can I Keep Selling Sex For Money; Officer?;Citrate;Isocitrate;alpha-Ketoglutarate;SuccinylCoA;Succinate;Fumarate;Malate;Oxaloacetate
3464
Q1733:Regulated glycolytic enzymes
3465
Hexokinase (-G6P);Glucokinase (+insulin);PFK1 (-citrate ATP +AMP +F-2;6-BP);Pyruvate kinase (-Ala; -ATP; +F1;6-BP);Pyruvate dehydrogenase (-ATP; -NADH; -AcetylCoA)
3466
Q1734:Regulated TCA cycle steps
3467
Citrate synthetase (-ATP);Isocitrate dehydrogenase (+ADP; ATP; -NADH);Alpha-KG dehydrogenase (-NADH; -ATP; succinyl CoA)
3468
Q1735:Lesch-Nyhan syndrome
3469
HGPRT deficiency; can'd do purine salvage pathway; get uric aciduria. X-linked
3470
Q1736:I cell disease
3471
Lack of mannose-6-phosphate transfer enzyme in golgi network means can't tag lysosomal enzymes for traffic to lysosome. Get secreted instead->coarse facies; early death
3472
Q1737:Energy from TCA cycle per acetyl CoA
3473
3 NADH --> 9 ATP;1 FADH2 --> 2 ATP;1 GTP --> 1 ATP;12 ATP/cycle via oxidative phosphorylation
3474
Q1738:Galactosemia
3475
Mild: Galactokinase deficiency->galactitol->childhood cataracts;Severe: Gal-1P uridyl transferase deficiency-> very high galactitol->liver damage; galactosemia; galacturia; cataracts; mental retardation ;Tx both w/glucose & lactose free diet
3476
Q1739:Fructosuria
3477
Fructokinase deficiency: benign fructosuria;Fructose intolerance: Lack of aldolase B to convert F1P to DHAP and glyceraldehyde->vomiting w/fructose load; mental retardation; etc.
3478
Q1740:Cofactors for PDH and a-KGDH
3479
Vitamin B1->thiamine->TPP;Vitamin B2->riboflavin>FAD+;Vitamin B3->niacin->NAD+;Vitamin B5>pentothenate->CoA;Lipoic acid
3480
Q1741:Cori cycle
3481
1) Anaerobic glycolysis in muscle to pyruvate;2)Pyruvate -> lactate to regenerate NAD+;3) Lactate to liver via blood;4) Lacate converted back to pyruvate and then to glucose by gluconeogenesis (6 ATP);5) Glucose sent back to muscle in blood
3482
Q1742:Energy yield of anaerobic glycolysis
3483
2 ATP;Reducing equivalents in NADH used to convert pyruvate to lactate via LDH to regenerate NAD+ to keep running glycolysis
3484
Q1743:Hexokinase vs glucokinase
3485
Hexokinase: all cells; inhib'd by G6P;Glucokinase: liver & islet cells; stim'd by insulin with lower Km but higher Vmax>glucose storage and
3486
Q1744:SAM
3487
S-adenosyl methionine;ATP+Met-->SAM->>Homocysteine;Need B12 & folate to regenerate methionine from ATP;Regeneration of methionine is how B12 converts dietary folate into form usable by purine synth and thymidylate synthase
3488
Q1745:GPCRs that signal via Gs
3489
Gs stims cAMP synth;B1->inotrope/chronotrope;B2->SMC relaxation;H2->stomach;V2->aquaporin insertion in kidney;D1
3490
Q1746:GPCRs that signal via Gq
3491
Gq > PLC > DAG+IP3 > PKC & Ca2+;H1->allergy;a1>vasoconstrict;V1->vasoconstrict;M1;M3
3492
Q1747:GPCRs that signal via Gi
3493
Gi inhibs cAMP synth;M2;a2;D2
3494
Q1748:Collagen types
3495
Type 1: classic (bone; skin);Type 2: cartilage/joints; hyaline;Type 3: Reticulin (skin etc); granulation tissue;Type 4: basement membranes
3496
Q1749:Electron transport chain
3497
NADH > e- > ;Complex I > H+ ;CoQ ;FADH2 > e- > Complex II >CoQ;complex III > H+;Cyt C;Complex IV > H+ + O2;H+ > ATP synthase > ATP
3498
Q1750:Oligomycin
3499
Inhibs ATP synthase > can't dissipate H+ gradient > ETC machinery gets backed up and stopped > ROS
3500
Q1751:2;4-dinitrophenol
3501
Allows H+ to leak out of mitochondrial matrix > uncouples electron transport from ATP synthesis gradient
3502
Q1752:Rotenone
3503
Inhibs e- transport > stops ETC > reduces proton gradient
3504
Q1753:Cyanide
3505
Inhibs e- transport > stops ETC > reduces proton gradient
3506
Q1754:Irreversible gluconeogenesis enzymes
3507
Pyruvate carboxylase (mitochondria;PEP carboxykinase;Fructose-2;6-bisphosphatase;Glucose-6phosphatase (liver only)
3508
Q1755:von Gierke's disease
3509
Type I glycogen storage disease;Glucose-6-phosphatase deficiency;Liver can't export glucose;-Glycogen accum>hepatomegaly;-Hypoglycemia;-Lactic acidosis
3510
Q1756:Essential amino acids
3511
PVT TIM HALL;Phenylalanine;Valine;Tryptophan;Threonine;Isoleucin e;Methionine;Histidine;Arginine;Leucine;Lysine
3512
Q1757:PVT TIM HALL
3513
Phenylalanine;Valine;Tryptophan;Threonine;Isoleucine;Methi onine;Histidine;Arginine;Lysine;Leucine
3514
Q1758:Purely ketogenic amino acids
3515
Leucine & lysine only. Both are also essential
3516
Q1759:Purely glucogenic essential AA:
3517
V-MATH;Valine; methionine; arginine; threonine; histidine
3518
Q1760:Urea cycle
3519
Ordinarily; Careless Crappers Are Also Frivolous About Urination;Ornithine;Carbamoyl phosphate;Citruline;Asparatate;Arginosuccinate;Fumarate;Ar ginine;Urea
3520
Q1761:Black urine
3521
Alkaptonuria: can't break down homogentisic acid; a metabolite of tyrosine
3522
Q1762:Musty odor; pale skin; mental retardation
3523
Phenylketonuria: can't convert phenylalanine (musty and retarded) to tyrosine (pale)
3524
Q1763:Cystinuria frequency
3525
4.902777778
3526
Q1764:Cystinuria defect
3527
COLA;Defect of AA transporter responsible for resorption of Cysteine; Ornithine; Lysine & Arginine from proximal tubule
3528
Q1765:Components of sucrose
3529
Fructose + glucose
3530
Q1766:Components of lactose
3531
GaLactose + glucose
3532
Q1767:Function of ApoA1
3533
Cofactor for LCAT
3534
Q1768:Function of ApoB
3535
Binds LDLR
3536
Q1769:Function of ApoCII
3537
Cofactor for lipoprotein lipase
3538
Q1770:Function of ApoE
3539
Cofactor for lipoprotein binding to receptor for uptake
3540
Q1771:Cherry red spot
3541
Tay-Sachs disease; deficiency of hexosaminidase; so can't degrade GM2 ganglioside;Also Nieman Pick disease; deficiency of sphingomyelinase
3542
Q1772:fat soluble
3543
ADEK; absorption dependent on gut (ileum) and pancreas;toxicity more common because they accumulate in fat;malabsorption can cause def
3544
Q1773:water soluble
3545
B1; B2; B3; B5; B6; B12; C; biotin; folate;all wash out easily from body except B12 which is stored in liver
3546
Q1774:A def
3547
3548
Q1775:A function; exceess
3549
constituent of visual pigment; arthralgias; fatigue; headahce; skin change; sore throat; alopecia;found in leafy veggies
3550
Q1776:B1 (thiamine) def
3551
Beriberi and WK syndrome; seen in alcoholism and malnutrition;dry: polyneuritis;wet: high output CF
3552
Q1777:B1 function
3553
cofactor for oxidative decarboxy of a-ketoacids; cofactor for transketolase in HMP shunt
3554
Q1778:B2 (riboflavin) def
3555
angular stomatitis; cheilosis; corneal vascularization
3556
Q1779:B2 function
3557
cofactor in ox-red;FMN; FAD
3558
Q1780:B3 def
3559
pellagra can be caused by Hartnup disease (decreased tryp absorption); malignant carcinoid syndrome and INH;sxs: diarrhea; dermatitis; dementia
3560
Q1781:B3 function
3561
constituent of NAD; NADP;derived from tryp using B6
3562
Q1782:B6 (pyridoxine) def
3563
convulsions; hyperirritability (def induced by INH and OCP); peripheral neuropathy
3564
Q1783:B5 function
3565
coverted to pyridoxal phosphate - transaminatiors (ALT; AST); decarbox; heme synthesis
3566
Q1784:B12 (cobalamin) def
3567
macrocytic; megaloblastic anemia; neuro sxs (optic neuropathy; subacute combined degeneration; parasthesia); glossitis;def caused by: malabsorption; lack of IF; or absence of terminal ileum;Schilling test to detect def;abnormal myelin seen
3568
Q1785:B12 function
3569
cofactor for homocysteine methylation (transfers CH3 groups);stored in liver;very large reserve;synthesized by microorganisms
3570
Q1786:Folic acid def
3571
most common vitamin def; macrocytic; megaloblastic anemia;no neuro sxs
3572
Q1787:folic acid function
3573
coenzyme (tetrahydrofolate) for 1 carbon transfer; involved in Me reactions;important for synthesis of nitrogenous bases in DNA and RNA
3574
Q1788:Biotin def
3575
dermitits; enteritis; caused by antiobiotic use; ingestion of raw eggs
3576
Q1789:Biotin function
3577
cofactor for caboxylations;pyruvate-->OAA;ACOA->MCoA;PCOA-->MMCoA
3578
Q1790:Vit C def
3579
scurvy- swollen gums; bruising; anemia; poor wound healing
3580
Q1791:Vit C funciton
3581
necessary for hydroxylation of proline and lysine in collagen synthesis;facilitates iron absorption by keeping iron in Fe2 reduced state;necessary cofactor for DA-->NE
3582
Q1792:Vit D def
3583
rickets in children (bending bones); osteomalacia in adults (soft bones); hypocalcemic tetany
3584
Q1793:function vit D
3585
increase intestinal absorption of Ca and P
3586
Q1794:vit D excess
3587
hypercalcemia; loss of appetite; stupor;seen in sarcoidosisdisease where epithelial macrophages convert vit D into active form
3588
Q1795:storage form of vitamin D
3589
25-OH D3
3590
Q1796:active form of vit D
3591
1; 25 (OH)2 D3
3592
Q1797:vit D from milk
3593
ergocalciferol; consumed in milk D2
3594
Q1798:vit D from sun skin
3595
cholecalciferol D3
3596
Q1799:Vit E def
3597
increased fragility of erythrocytes; neurodysfunction
3598
Q1800:vit E function
3599
antioxidant (protects erythrocytes from hemolysis)
3600
Q1801:vit K def
3601
neonatal hemorrhage with increased PT and PTT but normal bleeding time because neonates have sterile intestines and are unable to synthesize vit K
3602
Q1802:vit K function
3603
catalyzes gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting;synthesized by intestinal flora
3604
Q1803:K dependent clotting factors
3605
II; VII; IX; X;protein C and S;warfarin is vitamin K antagonist
3606
Q1804:Zinc deficiency
3607
delayed wound healing; hypogonadism; decreased adult hair; may predispose to alcoholic cirrhosis
3608
Q1805:Clinical characteristics of WK syndrome
3609
ocular distrubances; nystagmus;gait ataxia;mental dysfunction (confusion; apathy; listlessness; disorientation);Korsakoff psychosis- retrograde recall; inability ot acquire new info
3610
Q1806:ntureint def assoc with cheilosis; glossitis; stomatitis
3611
iron; riboflavin; niacin; folate; B12
3612
Q1807:how does niacin help tx type IIb hyperlipoproteinemia
3613
inhibits lipolysis in adipose-->less circulating free fatty acids --> less fatty acids to liver --> less VLDL --> less LDL
3614
Q1808:INH leads to deficiency in
3615
B6 and B3
3616
Q1809:folic acid is involved in synthesis of;
3617
purines (A and G) and thymine
3618
Q1810:where is B12 absorbed
3619
distal ileum;Crohns and sprue can cause absorption problems
3620
Q1811:what organs help absorb B12
3621
salivary glands; stomach; pancreas; distal ileum
3622
Q1812:antioxidant vitamins
3623
C; E and A
3624
Q1813:how does vit D work at the cell
3625
interacts with target cell DNA to selectively stimulate or repress gene stimulation
3626
Q1814:first vit D hydroxylation
3627
25; in liver
3628
Q1815:second vit D hydroxylation
3629
1; in kidney
3630
Q1816:What drug block DNA Topoisomerase II? Prok? Eukar?
3631
Prok: nalidixic acid/quinolones;Eukaryotes: etoposide ;and teniposide
3632
Q1817:Which cells contain telomerase? What are they linked with?
3633
embryonic; germ cells; stem cells except somatic cells;cancer/malignant cells have a high level of telomerase;They are linked with apoptosis
3634
Q1818:What is another name for topoisomerase II in PROK?
3635
DNA gyrase
3636
Q1819:What nucleic acid has the most methyl groups?
3637
Cytosine
3638
Q1820:What happens when you take a methyl out of Cytosine?
3639
It becomes demethylated to Uracil
3640
Q1821:During what cell cycle does DNA repair occur?
3641
G1 Phase
3642
Q1822:When does mismatch repair occur? (phase)
3643
G2 phase
3644
Q1823:What does p53 gene encode for?
3645
Protein that prevents a cell w/ damaged DNA from entering the S phase
3646
Q1824:What disease is associated with p53 gene?
3647
Li Fraumeni Syndrome and many solid tumors
3648
Q1825:What is ATM gene?
3649
ATM encodes for a kinase needed for p53 to work
3650
Q1826:What is ATM gene associated with?
3651
ataxia telangiectasia
3652
Q1827:What is ataxia telangiectasia?
3653
hypersensitivity to X-rays;predisposition to lymphomas
3654
Q1828:What is BRCA1 associated with?
3655
Breast; Prostate and Ovarian Cancer
3656
Q1829:What is BRCA 2 associated with?
3657
Breast cancer
3658
Q1830:What are BRCA1 and 2 associated with?
3659
required for p53 activity
3660
Q1831:What happens when UV light damages DNA? What disease is prone to this damage? Why?
3661
it crease thyamine dimers;- patients with Xeroderma Pigementosa;- they lack excision endonuclease
3662
Q1832:What does Xeroderma Pig. consists of?
3663
- Extreme UV sensitivity;- excessive freckling;- multiple skin cancers;- corneal ulcerations
3664
Q1833:What are two diseases that are associated with DNA repair?
3665
Xeroderma and Hereditary Nonpolyposis Colorectal Cancer (HNCC)
3666
Q1834:What drug inhibits DNA dependent RNA polymerase?
3667
Rifampin
3668
Q1835:What drug binds to DNA preventing its transcription?
3669
Actinomycin D
3670
Q1836:What drug inhibits RNA polymerase II?
3671
amanitin (from mushrooms)
3672
Q1837:Which RNA do RNA Pol 1;2 and 3 code for?
3673
1 2 and 3 rhyme with R M T;respectively;1 rRNA 2 mRNA 3 tRNA
3674
Q1838:What is similar to sigma factor in Eukaryotes?
3675
TFIID; transcription factors II;they bind before RNA Pol; just like Sigma factors
3676
Q1839:How does RNA pol know where to start?
3677
- sigma factor needs to find promoter region;- two consensus sequences are recognized as TATA BOX
3678
Q1840:How long does sigma stay bound to DNA?
3679
As soon as transcription begins; sigma is released
3680
Q1841:How does mRNA know when to stop trasncription?
3681
Rho-independent termination occurs when newly formed RNA folds on itself to form GC-rich hairpin loop
3682
Q1842:How does Rho-dependet termination work?
3683
Rho displaces RNA pol from the 3' end of the RNA once it has paused at the termination site
3684
Q1843:What binds to Shine-Dalgarno sequence?
3685
Ribosomes
3686
Q1844:Where are Shine-Dalgarno sequences located?
3687
5' end
3688
Q1845:What is unique about prokaryotic transcription and translation?
3689
They can both start at the same time with the help of ShineDalgarno sequences which allow ribosomes to hook on and start the translation before transcription is done
3690
Q1846:What is Shine-Dalgarno?
3691
Shine-Dalgarno sequences lets prokaryotes shine! They can do 2 things at the same time! Transcribe and TRANSLATE!
3692
Q1847:What are the three STOP codons?
3693
UAG;UAA;UGA;U Are Gone;U Are Away;U Go Away
3694
Q1848:What is the poly-A tail added for?
3695
1) protect from rapid degradation;2) transport to cytoplasm
3696
Q1849:What is added at the 5' end of the transcribed mRNA?
3697
It is actually hnRNA and a methylguanosine cap Me-Gppp is added to the 5' end
3698
Q1850:What is the function of the methyl guanosine cap?
3699
It helps protect the mRNA chain from degradation
3700
Q1851:Where is the poly A tail added?
3701
3' end
3702
Q1852:What can you say about the length of the poly A tail?
3703
The longer the more stable the mRNA (hnRNA)
3704
Q1853:What is another name for spliceosome?
3705
snRNP; SNURP
3706
Q1854:What is the function of spliceosomes?
3707
They excise introns and leave only exons to be expressed
3708
Q1855:What disease has a problem in spliceosomes/snRNP?
3709
B-thatlassemia since mutations interfere with the splicing of Beta-Globin mRNA
3710
Q1856:How are the introns degraded?
3711
They are degraded in a lariat structure and excised by spliceosomes
3712
Q1857:How can you calculate how many introns you have?
3713
I=E-1;If you have 4 exons;Then you have I=4-1;I=3; 3 introns
3714
Q1858:Where is the activated amino acid in a tRNA?
3715
at the 3' end
3716
Q1859:How does tRNA accomplish its lariat shape (loop/cloverleaf)?
3717
it has weird bases like;D;T;Pseudouridine
3718
Q1860:Where is the anticodon found in the tRNA?
3719
in the middle of the loop;center loop in between 5' and 3' ends
3720
Q1861:How do you know a protein is marked for destruction?
3721
It has been ubiquiniated by ubiquitin;Usually because of misfolding
3722
Q1862:Who translates proteins for cytoplasm and mitochondria?
3723
free cytoplasmic ribosomes
3724
Q1863:Who transtalates proteins for secreted proteins; membrane proteins; and lysosomas enzymes?
3725
Rough E.R.
3726
Q1864:How can you make a protein to be delivered to the R.E.R.?
3727
N-terminal hydrophobic signal sequence has to be added to be secreted or placed in the membranes
3728
Q1865:How do you direct a prtoein to go inside a lysosome?
3729
It is phosphorylated with a mannose residue in the R.E.R;usually this protein is an enzyme to be delivered to the lysosome
3730
Q1866:What happens to misfolded proteins?
3731
They are mark with ubiquitin to be destroyed by proteosomes;you will be liquidated!!!;Ubiquinated!!!!
3732
Q1867:What are proteosomes?
3733
They are large cytoplasmic complexes that digest damaged proteins
3734
Q1868:What enzyme is deficient in Fabry's Dz?
3735
alpha-galactosidase A
3736
Q1869:What enzyme is deficient in Krabbe's Dz?
3737
BB for beta-galactosidase
3738
Q1870:What enzyme is deficient in Gaucher's Dz?
3739
beta-glucocerebrosidase;(It is in the center of the reactions)
3740
Q1871:What enzyme is deficient in Niemann-Pick's Dz?
3741
Sphingomyelinase
3742
Q1872:What enzyme is deficient in Metachromic Leukodystrophy?
3743
Arylsulfatase A
3744
Q1873:What enzyme is deficient in Tay Sachs Dz?
3745
Hexosaminidase A
3746
Q1874:What accumulates from Fabry's Dz?
3747
ceramide trihexoside
3748
Q1875:What is the finding in Fabry's Dz?
3749
renal failure
3750
Q1876:What accumlulates in Krabbe's Dz?
3751
galactocerebroside in the brain
3752
Q1877:What is the finding in Krabbe's Dz?
3753
Optic atrophy;spasticity;early death;The krabbe got your eyes!
3754
Q1878:What accumlulates in Gaucher's Dz?
3755
glucocerebroside;- brain;- liver;- spleen;- bone marrow;G is for Glucocerebrosidase
3756
Q1879:What accumlulates in Neimann Pick's Dz?
3757
sphingomyelin and cholesterol;No man Picks his nose with hiSPHINGER
3758
Q1880:Wnat are the findings in Neimann Pick Dz?
3759
increase cholesterol and sphyhingomyelin in reticuloendothelial and parenchymal cells;- Patients die by age 3
3760
Q1881:What accumlulates in Tay Sachs Dz?
3761
GM2 ganglioside 2
3762
Q1882:What are the findings in Tay Sachs Dz?
3763
Cherry-red spot on macula;1:30 carrier in European Jews;Death by age 3;Got a Sach of Cherries in your Macula
3764
Q1883:What accumlulates in Metachromatic Leukodystrophy?
3765
sulfatide in;- brain;- kidney;- liver;- peripheral nerves
3766
Q1884:Which lysosomal storage diseases (of the sphingolipidoses) are autonomal recessive?
3767
All except Fabry's!!!
3768
Q1885:What lysosomal storage disease are x-linked?
3769
sphingolipidosis: Fabry's;mucopolysaccharidoses: Hunter's;Hunter's hit the X
3770
Q1886:What mucopolysacharidose Dz has no corneal clouding?
3771
Hunter's;They need to see what they hunt!
3772
Q1887:What enzyme is deficient in Hurler's Dz?
3773
alpha-L-iDURONidase
3774
Q1888:What enzyme is deficient in Hunter's Dz?
3775
iDURONate sulfatase
3776
Q1889:What increases in Hurler's Sx?
3777
heparan and dermatan sulphate;mucopolysaccharides
3778
Q1890:What are the signs of Hurler's Sx?
3779
Halted growth ;Progressive mental retardation ;Thick; coarse facial features with low nasal bridge ;Cloudy corneas ;Deafness ;Joint disease; including stiffness ;Heart value problems ;Abnormal bones of spine and claw hand
3780
Q1891:How do we screen for Hurler's Sx?
3781
Urine Heparan and Dermatan sulfate
3782
Q1892:What is a term associated with Hurler's Sx?
3783
Gargoylism since there are facial deformities
3784
Q1893:What signs and symtoms are associated with Hunter's Sx?
3785
protuberant abdomen; claw hands; excessive hair growth; coarsening of the face with grotesque facial features; retarded growth; and behaviour problems.
3786
Q1894:Which syndrom is severe? Hurler or Hunter?
3787
Hurler's Syndrome ;It is termed MPS I;Hunter is MPS II
3788
Q1895:What amino acid is unique to collagen?
3789
Hydroxyproline
3790
Q1896:Where does glycosylation occur?
3791
E.R. and Golgi apparatus
3792
Q1897:Which enzymes are requiered to make collagen?
3793
proline and lysine hydroxylases
3794
Q1898:What vitamin is needed to make collagen?
3795
Vitamin C;- Hydroxylates Proline and Lysine in the RER
3796
Q1899:What are some co-factors of lysyl oxidase?
3797
O2 and Copper (Cu)
3798
Q1900:What Dz results from deficiency of Lysyl Oxidase and why?
3799
Deficient Copper (Cu2+);Menke's Dz is a genetic deffect that decrease collagen synthesis
3800
Q1901:What enzyme is deficient in Ehler's Danlos?
3801
Lysine Hydroxylase
3802
Q1902:What are the signs and symptoms of Menke's Dz?
3803
Depigmented (steely) hair;Arterial tortuosity; rupture;Cerebral degeneration;Osteoporosis
3804
Q1903:What collagen is affected in Osteogenesis Imperfect?
3805
Type I for bONE
3806
Q1904:What do you see in patients with Osteogenesis Imperfecta?
3807
skeletal deformities;fractures;blue sclera
3808
Q1905:What other disease is involved in Copper usage?
3809
Wilson's Dz but it is a Copper (Cu2+) toxicity
3810
Q1906:What are some symptoms of Wilson's Dz?
3811
Liver Cirrhosis;Cu damages nerves and causes Brown KaisserFleischner Rings
3812
Q1907:What inhibits eEF-2? Elongation factor 2 in Eurkaryotes
3813
Diphtheria and Pseudomonas Toxins
3814
Q1908:What inhibits protein translation in Eukaryotes?
3815
Diphteria and Pseudomonas
3816
Q1909:Where do Diphtheria and Pseudomonas act?
3817
eEF-2 is inhibited
3818
Q1910:How many ATPs high energy bonds are needed to translate an amino acid?
3819
4 Total for each amino acid;breakdown;2 ATP for charging;1 GTP for initiation;1 GTP for Elongation
3820
Q1911:What is the antibiotic of choice for pertussis?
3821
Erythromycin; blocks transLOcation;macrOLide
3822
Q1912:What results in Menkes Dz?
3823
- Fragile bones;- Fragile blood vessels;from poorly crosslinked connective tissue
3824
Q1913:What blocks ADP ribosylation of EF-2?
3825
Diphtheria and Pseudomonas
3826
Q1914:What is an operon?
3827
group of proteins required for a particular metabolic function
3828
Q1915:Where is the regulatory region in Prokaryotes?
3829
Upstream on the 5' end
3830
Q1916:What kind of mRNA does the operon produce?
3831
Polycistronic mRNA
3832
Q1917:What two ways of transcriptional control exist in prokaryotes?
3833
regulation of activator and repressor proteins;Attenuation
3834
Q1918:Where do we find Attenuation?
3835
Histidine Operon
3836
Q1919:What model do we use for activator and repressor proteins?
3837
Lac Operon
3838
Q1920:What two regulatory proteins exist in the Lac Operon Control?
3839
lac repressor protein;c-AMP-dependent activator protien (CAP)
3840
Q1921:What does the lac operon sense?
3841
glucose is preferred but in the absence lactose is taken as energy
3842
Q1922:What regulates the CAP?
3843
cAMP levels;if glucose is low; cAMP increases and activates it
3844
Q1923:What happens to the lactose operon if glucose is present?
3845
it is shutdown;glucose decreases cAMP;so CAP doesn't bind to CAP site
3846
Q1924:When does CAP bind to CAP site?
3847
when glucose is low since cAMP is high
3848
Q1925:When is the repressor protein made?
3849
Always since it is embedded in the mRNA sequence
3850
Q1926:What does lactose do to the lac operon?
3851
lactose induces gene expression since it prevents the repressor protein from binding to the operator sequence
3852
Q1927:If lactose is high and glucose is low what happens?
3853
1) lactose binds to repressor and stimulates gene expresssion;2) cAMP is high so it binds to CAP protein and
3854
Q1928:When does the lactose operon stop sequence?
3855
when the repressor protein is bound to the operator
3856
Q1929:When is high expression of the lac operon found?
3857
High lactose and no glucose
3858
Q1930:When glucose is present does cAMP go up or down?
3859
they are inversely proportional;Glucose high cAMP low;glucose low cAMP high
3860
Q1931:When glucose is high; what happens to the repressor?
3861
it remains active since CAP can't block it (cAMP is low)
3862
Q1932:What compounds are formed when lactose is broken down?
3863
galactose and glucose
3864
Q1933:What enzyme degrades lactose?
3865
Beta-Galactosidase
3866
Q1934:Where does RNA polymerase work on?
3867
Promoter
3868
Q1935:Lactose goes with
3869
Repressor
3870
Q1936:Repressor attaches to?
3871
Operator
3872
Q1937:Attenuation??? Which operon?
3873
Histidine Operon
3874
Q1938:What happens when histidine is absent?
3875
enzymes are produced
3876
Q1939:What other a.a. work similar to the Histidine Operon?
3877
Tryptophan;Leucine;Phenylalanine
3878
Q1940:What is attenuation?
3879
premature termination of transcription
3880
Q1941:What does attenuation in prokaryotes depdend on?
3881
The fact that transcription and translation occur simultaneously in prokaryotes
3882
Q1942:What happens if histidine is present?
3883
Transcription is terminated before RNA pol reaches operon
3884
Q1943:Can attenuation occur in Eukaryotes?
3885
No! Transcription and translation are two separate; independent events
3886
Q1944:What starts translation after leader peptide is made?
3887
Shine-Dalgarno sequence
3888
Q1945:What happens when histidine is low?
3889
the ribosomes will stall and not form the stem and loop + poly U that stops the ribosomes and they will continue to transcribe the genes of the operon
3890
Q1946:What are activator proteins called in Eukaryotes?
3891
Response Elements
3892
Q1947:Where are response elements located?
3893
Some upstream in promoter region;Most in an enhancer region outside of promoter even more upstream
3894
Q1948:Where are upstream promoter elements located?
3895
Just upstream of -25 sequence TATA Box
3896
Q1949:What does the upstream promoter elements include?
3897
CCAAT Box (-75) NF-1;GC-rich SP-1 (in between -25 and 75)
3898
Q1950:What are the characteristics of enhancers?
3899
Contain activator proteins;- may be 1000 bp away from gene;- upstream; downstream; within an intron;-they are tissue specific
3900
Q1951:What are repressor proteins in Eukaryotes called?
3901
Silencers
3902
Q1952:What are cis regulators?
3903
DNA regulatory base sequences/binding sites for proteins
3904
Q1953:What are trans regulators?
3905
transcription factors
3906
Q1954:What are the properties of a trans regulatory property?
3907
they can diffuse through the cell to their point of action.
3908
Q1955:What protein class are steroid receptors?
3909
Zinc Finger
3910
Q1956:What protein class are cAMP response element binding prtoeins? (CREBs)
3911
Leucine Zipper
3912
Q1957:Homeodomain proteins are what protein class and what are they involved in?
3913
Helix-turn-helix;Regulate gene expression during development;- embryonal development
3914
Q1958:What protein class are peroxisome proliferatoractivated receptors? (PPARs)
3915
Zinc finger proteins
3916
Q1959:What is the response element for 1) steroid receptors?;for 2) cAMP?;for 3) peroxisome (PPARs)
3917
1) HRE;2) CRE;3) PPREs
3918
Q1960:Which response element is induced with the new tx for insulin resistance?
3919
PPARs;- thiazolidinediones
3920
Q1961:What is a new drug that targets Peroxisime proliferator-activated receptors? (PPARs)
3921
Clofibrate;-affects lipid metabolism
3922
Q1962:What happens when glucose is low?
3923
Glucagon released
3924
Q1963:What is the effect of glucagon on gene regulation?
3925
increases cAMP
3926
Q1964:What happens in time of stress?
3927
Cortisol secreted
3928
Q1965:What does cAMP do?
3929
- activates Protein Kinase A;- CREB is activated via phosphorylation
3930
Q1966:CREB binds to what in the nucleus?
3931
CREB enters the nucleus and binds CRE region in the enhancer region
3932
Q1967:What does the GRE and CRE region do?
3933
They enhance or activate PEPCK gene
3934
Q1968:Who activates GRE enhancer region?
3935
cortisol (glucocorticoid response element)
3936
Q1969:Who activates CRE enhancer region?
3937
Active CREB (cAMP response element) which is activated by cAMP
3938
Q1970:What are two homeodomain protein regulator genes?
3939
HOX and PAX genes;Homeobox and Paired-Box genes
3940
Q1971:What disease is associated with PAX (paired-box) genes?
3941
Klein Waardenburg syndrome (WS-III);dystopia canthorum; pigment abnormalities;congenital deafness;limb abnormalities
3942
Q1972:What are some exceptions to codominat expression?
3943
- Barr Body (inactive X chromosome) in women;- Ig heavy and light chain loci;- T-cell receptor loci
3944
Q1973:What happens when genes become acetylated?
3945
The histones are acetylated and it increases gene expression
3946
Q1974:How do genes become silenced? Give two diseases that follows this;
3947
Methylation of DNA silences genes;Prader-Willi and Angelman Sx
3948
Q1975:What chromosome is involved in defect of imprinting?
3949
Chromosome 15
3950
Q1976:What is the problem in Prader-Willi Sx?
3951
Prader-Willi region is inherited from Paternal Origin (P for P);so; if father has defective chromosome 15 then symptoms will occur
3952
Q1977:What are the symptoms of Prader-Willi Sx?
3953
- Childhood obesity + hyperphagia;- Hypogonadotrophic hypogonadism;- Mental Retardation;- Hypotonia
3954
Q1978:How else can you get Prader-Willi Sx?
3955
uniparental (maternal) disomy of chromosome 15
3956
Q1979:When does upstream termination occur?
3957
When histidine is present
3958
Q1980:When does downstream termination occur?
3959
when histidine is absent;* this is a normal termination
3960
Q1981:What kindo of domain do HOX and PAX have?
3961
helix-turn-helix domain
3962
Q1982:What is the first step in increase activity of betagalactosidase activity?
3963
increase in cAMP due to glucose depletion
3964
Q1983:Why does beta-galactosidase activity decrease?
3965
depletion of lactose;- dissociation of repressor protein;binding of repressor to operator control region
3966
Q1984:Chp. 6
3967
Recombinant DNA
3968
Q1985:WHat does restriction sites provide?
3969
Usually defense against DNA viruses
3970
Q1986:How do palindromes get protected in bacterial DNA?
3971
methylase enzyme modification
3972
Q1987:How is infecting viral DNA recognized?
3973
unmethylated palindromes are recognized by restriction endonuclease
3974
Q1988:What is a vector?
3975
piece of DNA that is capable of autonomous replication in a host cell
3976
Q1989:What is recombinant DNA?
3977
when a fragment is placed inside a vector
3978
Q1990:What is a genomic DNA library?
3979
colonies produced by plating the recombinant DNA with antibiotic resistance and sensitivity
3980
Q1991:What can restriction site polymorphisms be used for?
3981
These enzymes cut DNA sequences and detect defects in longer sequences or shorter sequences;Example: Sickle Cell Mutation which results in ONE long 1.35 kb fragment instead of a 1.15kb and a 0.2kb fragment (2 fragments is normal)
3982
Q1992:What do cDNA lack?
3983
introns
3984
Q1993:What must cDNA contain?
3985
complete coding sequence of a gene
3986
Q1994:What is produced at the end of a cloning procedure?
3987
An expression library
3988
Q1995:What do you do after reverse transcriptase has created the first strand of cDNA?
3989
Treat DNA with NaOH to remove mRNA template
3990
Q1996:What enzyme do you use to create cDNA?
3991
reverse transcriptase
3992
Q1997:How do you remove mRNA template strand in making cDNA?
3993
NaOH (sodium hydroxide)
3994
Q1998:What must be inserted in order to produce proteins as the end product of cloning?
3995
- Bacterial Promoter;- Shine-Dalgarno Sequence
3996
Q1999:What are 3 examples in which cDNA expression libraries are being used?
3997
1) Recombinant Human Insulin;2) Recombinant Factor VIII (treating Hemophilia A);3) Recombinant HBsAg (antigen(protein) is made and given to patients to immunize them against hepatitis B without introducing the live virus)
3998
Q2000:Does the gene therapy cure the patient and subsequent generations?
3999
NO! it cures only the patient since it is only introduced into the affected organ and not into the reproductive tissues of the afected individual
4000
Q2001:What is a transgenic animal?
4001
animal in which a new gene has been introduced into its germline
4002
Q2002:How is gene therapy different from Transgenic Animals?
4003
transgenic animals have virtually new gene in every cell; including the gametophytes so that they get passed on to their offspring and these are no longer affected by the defect
4004
Q2003:What are genomic libraries used for?
4005
studying DNA sequences that are not expressed;- response elements;- introns;- promoters;Constucting restriction maps of DNA (sickle cell);Id genetic markers (microsatellites)
4006
Q2004:Chp. 7
4007
Genetic Testing
4008
Q2005:What are the Autosomal Dominant Dz characteristics?
4009
- Only one mutant allele needed;- both sexes affected;- male to male transmission
4010
Q2006:What are the Autosomal Dominant Dz?
4011
1) Familian Hypercholesterolemia (LDL receptor def.);2) Huntington Dz;3) Neurofibromatosis I;4) Marfan Sx;5) Acute Intermitent Porphyria
4012
Q2007:What are the characteristics of autonsomal recessive?
4013
- two mutant alleles are requiered;- born to unaffected parents;- either sex;- male to male transmission
4014
Q2008:What are some of the autosomal recessive dz?
4015
* Sickle Cell Anemia;* Cystic Fibrosis;* Phenylketonuria;* Tay-Sachs Dz (Hexosaminidase A def.)
4016
Q2009:What are the traits of X-linked dominant?
4017
- One mutant allele ;- either sex;- affected male passes on to all daughters;- affected female passes trait to both fem and males
4018
Q2010:What are 2 X-linked Dominant Dz?
4019
- Hypophosphatemic Rickets;- Fragile X syndrome
4020
Q2011:What are the traits of X-linked recessive dz?
4021
- usually males are affected;- no male to male transmission
4022
Q2012:What are some of the X-linked recessive dz?
4023
1) Duchene Muscular Dystrophy;2) Lesch Nyhan Sx (Hypoxanthine-guanine phosphoribosyltransferase HGPRT)self mutilation;3) Glucose-6-Phosphate Dehydrogenase def;4) Hemophilia A and B
4024
Q2013:What is the trait of Mitochrondrial Inheritance?
4025
- inherited maternally;- ALL offspring of affected female are affected!
4026
Q2014:What are the 3 diseases that arise from Mitochrondrial Inheritance?
4027
LHON; MELAS and MERRF;1) Leber Hereditary Optic Neurophathy;2) Mitochondrial Encephalomyopathy; lactic acidosis; stroke-like episodes;3) Myoclonic epilepsy with ragged red muscle fibers
4028
Q2015:What form of inheritance is Cystif Fibrosis?
4029
autosomal recessive
4030
Q2016:How do you inherit Hungtington Dz?
4031
Autosomal Dominat
4032
Q2017:What form of inheritance is sickle cell disease?
4033
autosomal recessive
4034
Q2018:What form of inheritance is Fragile X Sx?
4035
X-linked Dominant
4036
Q2019:How is Phenylketonuria inherited?
4037
autosomal recessive
4038
Q2020:How is Lesch-Nyhan Sx inherited?
4039
X-linked recessive
4040
Q2021:How is Neurofibromatosis I inherited?
4041
Autosomal Dominant
4042
Q2022:What is the mode of inheritance of Marfan Sx?
4043
Autosomal Dominant
4044
Q2023:How is Leber Hereditary Optic Neuropathy inherited?
4045
Mitochrondrial Inheritance
4046
Q2024:How is Duchenne Muscular Dystrophy inherited?
4047
x-linked recessive
4048
Q2025:How is myoclonic epilepsy inherited?
4049
mitochrondrial inheritance
4050
Q2026:How is Acute intermittent porphyria inherited?
4051
Autosomal DOMINANT
4052
Q2027:How is Rickets inherited?
4053
X-linked Autosomal Dominant
4054
Q2028:How is Cystic Fibrosis inherited?
4055
autosomal recessive
4056
Q2029:How is Phenylketonuria inherited?
4057
autosomal recessive
4058
Q2030:How is Familia Hypercholesterolemia inherited?
4059
Autosomal Dominant;LDL receptor deficiency
4060
Q2031:How is Tay-Sachs Disease inhertied?
4061
autosomal recessive
4062
Q2032:How is Lesch-Nyhan Sx inherited?
4063
HGPRT def;X-linked recessive
4064
Q2033:How is Hemophilia A and B inherited?
4065
X-linked recessive
4066
Q2034:How is Glucose-6-phosphatase inherited?
4067
X-linked recessive
4068
Q2035:How is cystic fibrosis inherited?
4069
CFTR autosomal recessive
4070
Q2036:Which RNA is identical to the coding strand?
4071
the mRNA
4072
Q2037:What is the template strand?
4073
The strand that is compelementary and antiparallel to the mRNA
4074
Q2038:What amino acids (a.a.) are precursors of catecholamines?
4075
Phenylalanine and Tyrosine
4076
Q2039:What does tryptophan form?
4077
Serotonin and Niacin
4078
Q2040:What a.a. is involved in depression?
4079
Tryptophan--> makes Serotonin
4080
Q2041:What a.a. are involved in maple syrup disease?
4081
Isoleucine; Leucine and Valine;I Love Vermont maple syrup!!!
4082
Q2042:What a.a. is a secondary amine?
4083
Proline
4084
Q2043:What does Proline do to the protein structure?
4085
disrupts secondary structure
4086
Q2044:What are the acidic a.a.?
4087
aspartic acid and glutamic acid ;negatively charged coo-
4088
Q2045:What a.a. are basic? 3
4089
Histidine; Arginine; Lysine;BASE HAL;They are positively charged NH+
4090
Q2046:What a.a. is associated with the Golgi apparatus? 2
4091
serine and threonine;O-linked glycosylation;Mannose-6phosphate;lysosomes
4092
Q2047:What a.a. is associated w/ endoplasmic reticulum and export of proteins?
4093
Asparagine;N-linked glycosylation
4094
Q2048:What are two a.a. that conatin sulfure?
4095
Cysteine and Methionine
4096
Q2049:What does cysteine do to the protein structure?
4097
stabilize the shape of proteins (3ry structure)
4098
Q2050:What two a.a. are linked with post-translational modificacion?
4099
serine; threonine and asparagine
4100
Q2051:What a.a. is a methyl donor?
4101
methionine ;S-adenosaylmethionine (SAM)
4102
Q2052:What does tyrosine make?
4103
Catecolamines;Thyroid T3/T4;Melanin
4104
Q2053:What is the smallest a.a.?
4105
glycine
4106
Q2054:What a.a. makes tyrosine?
4107
Phenylalanine
4108
Q2055:What is made with tyrosine?
4109
cathecholamiens;thyroid T3T4;melanin
4110
Q2056:What a.a. is associated with Vitamin B3?
4111
tryptophan is asociated with B3 (niacin) ;NAD
4112
Q2057:What disease is also related to tryptophan deficiency and pellagra?
4113
Hartnup Dz;since decreases Niacin B3 and causes Pellagra (dermatitis; diarrhea; demetnia)
4114
Q2058:What a.a. contributes to the negative charge of proteins?
4115
aspartic acid coo-;glutamic acid
4116
Q2059:What a.a. contributes to the positive charge of proteins?
4117
lysine and arginine
4118
Q2060:What a.a. is abundant in RBC?
4119
histidine since it brings the pH to 7.0
4120
Q2061:What is the only a.a. that is useful in maintaining the physiologic pH (7.2-7.4)?
4121
Histidine pK at 7.0
4122
4123
PVT TIM HALL;Private tim hall
4124
Q2063:What does PVT TIM HALL stand for?
4125
Phenylalanine;Valine;Tryptophan;Threonine;Isoleucine;Methi onine;Histidine;Arginine;Leucine;Lysine
4126
Q2064:What charge is the protein if the pH is lower than the pI?
4127
positive ;- it is trying to compensate and neutralize it (buffering it)
4128
Q2065:What charge is the protein if the pH is higher than the pI?
4129
negative
4130
Q2066:What are Cooperative Enzymes called?
4131
Allosteric Enzymes
4132
Q2067:WHat happens when Km increases?
4133
the affinity is low
4134
Q2068:What do enzymes do with chemical Rx?
4135
decrease energy of activation
4136
Q2069:What happens when there is a competitive inhibitor?
4137
Km increases; Vmax stays the same;Thin Kompetitive Increases
4138
Q2070:What happens when noncompetitive inhibitor binds?
4139
Km no effect; Vmax decreases
4140
Q2071:What happens when an irreversible inhibitor binds?
4141
Km no effect; Vmax decreases
4142
Q2072:What are two examples of competitive inhibitors?
4143
HMG-coA reductase;Methotrexate (inhibits folic acid dihidrofolate reductase)
4144
Q2073:What hormones affecte near-by organs?
4145
paracrine
4146
Q2074:What hormones go around the body through long distances?
4147
telecrine
4148
Q2075:What are two examples of paracrine hormones?
4149
prostaglandins and neurotransmitters
4150
Q2076:What are two classes of telecrine hormones?
4151
endocrine and GI hormones
4152
Q2077:What are the two classes of hormones?
4153
Hydrophocis and Hydrophilic
4154
Q2078:Where is the receptor for water soluble hormone? Lipid soluble?
4155
Water- receptor on cell membrane;Lipid - inside the cell Zinc Finger
4156
Q2079:What happens to the hormone inside the cell?
4157
Water - second messengers;Lipid - hormone receptor complex binds to response elements (HRE in enhancer region)
4158
Q2080:How are water soluble hormones controlling gene expresion?
4159
Through proteins like cAMP respones element binding (CREB)
4160
Q2081:Which process (water or lipid soluble) is faster?
4161
water soluble
4162
Q2082:What hormone group uses Leucine Zippers?
4163
Water Soluble
4164
Q2083:Give three examples of water soluble?
4165
Insulin;Glucagon;Catecholamines
4166
Q2084:What are 4 examples of lipid soluble hormones?
4167
Steroids;Calcitriol;Thyroxines;Retinoic Acid
4168
Q2085:What are the three second messengers for water soluble hormones?
4169
cAMP;PIP2 (DAG; IP3; Ca2+);cGMP
4170
Q2086:What does cAMP control? protein/enzyme/kinase?
4171
Gs protein; adenyl cyclase enzyme; protein kinase A
4172
Q2087:What does PIP2 control? protein/enzyme/kinase?
4173
Gq; phospholipase C; protein kinase C
4174
Q2088:What does cGMP control? protein/enzyme/kinase?
4175
none; guanyl cyclase; protien kniase G
4176
Q2089:What are two examples of cAMP control?
4177
glucagon;epinephrine (alpha2 and beta)
4178
Q2090:What are two examples of PIP2?
4179
vasopressin;epinephrine (alpah 1)
4180
Q2091:What are two examples of cGMP?
4181
Atrial Natriuretic Factor (ANF);Nitric Oxide (NO)
4182
Q2092:What does insulin; growth factor control? protein/enzyme/kinase?
4183
monomeric p21ras; none; tyrosine kinase
4184
Q2093:What are some examples of insulin and growth factors control?
4185
insulin;insulin-like growth factor (IGF);platelet-derived growth factor (PDGF);Epidermal Growth Factor (EGF)
4186
Q2094:What water soluble hormone system has a 7 helixspan?
4187
cAMP and PIP2 system
4188
Q2095:Whioh system works inside the nucleus?
4189
cAMP through CREB protein
4190
Q2096:Which system works with the E.R.?
4191
PIP2; releases Ca2+ from E.R.
4192
Q2097:What system doesn't requiere G proteins?
4193
cGMP for example Atrial Natriuretic Factor (ANF)
4194
Q2098:What two protoncogenes are associated with G proteins?
4195
1) p21ras oncogene ;colon; lung; breast and bladder CA;2) gsp oncogene;pituatary tumor; adenomas; endocrine ovarian turmos
4196
Q2099:What protein is stimulated in Cholera toxin?
4197
Gs alpha stimulates increase in cAMP
4198
Q2100:What is similar in ADP-ribosylation of Gs alpha?
4199
Cholera toxin and E. coli toxin
4200
Q2101:What bacteria inhibits Gi alpha?
4201
Pertussis;Increase activity of adenyl cyclase
4202
Q2102:What does p21 ras do?
4203
stimulates monomeric G protein
4204
Q2103:What is SH2 linked with?
4205
Tyrosine Kinase
4206
Q2104:What is sildenafil associated with?
4207
inhibits cGMP phosphodiesterase (PDE) in vascular smooth muscle
4208
Q2105:What is the correct sequence in cGMP and sildenafil?
4209
increase cGMP--> increase protein kinase--> vasodilation
4210
Q2106:What is associated with growth factor?
4211
tyrosine kinase
4212
Q2107:Vitamins
4213
Chp. 10
4214
Q2108:What enzymes is biotin involved in?
4215
All cabroxylases;pyruvate; acetyl coA; propionyl coA carboxylase
4216
Q2109:Which enzymes is vitamin B1 involved in?
4217
Thiamine is B1 involved in ;pyruvate dehydrogenase;alphaketoglutarate dehydrogenase;transketolase
4218
Q2110:What pathways are involved with Thiamine?
4219
B1 is involved in;PDH (pyruvate DHG);TCA cycle (alphakg);HMP Shunt (transketolase)
4220
Q2111:What are the symptoms of B1 deficiency?
4221
Wernicke- ataxia; nystagmus; ophtalmoplegia;Korsakoffconfabulation; psychosis;Wet Beri-beri cardiac failure lots of ATP needed
4222
Q2112:What is vitamin B3?
4223
Niacin
4224
Q2113:What is vitamin B3 involved with?
4225
dehydrogenases
4226
Q2114:What co-factors are made by B3?
4227
NAD and NADP
4228
Q2115:What disease comes about with B3 deficiency?
4229
diarrhea; dementia; dermititis ;pellagra
4230
Q2116:What is a.a. deficient in B3 deficiency?
4231
tryptophan (in corn)
4232
Q2117:What is folic acid involved in? (enzyme)
4233
thymidylates synthase;purine synthesis enzymes
4234
Q2118:What is the MCC of B1 deficiency?
4235
Alcoholism
4236
Q2119:What is the MCC of thiamine def.?
4237
alcoholism and pregnancy
4238
Q2120:How long is thiamine stored?
4239
3 months
4240
Q2121:What are the risks of folic acid deficiency?
4241
homocystinemia;deep vein thrombosis and atherosclerosis
4242
Q2122:What happens to fetus if there is folic acid def.?
4243
neural tube defects
4244
Q2123:What is vitamin B12 involved in? enzymes?
4245
Homocysteine methyltransferase;Methymalonyl CoA mutase
4246
Q2124:What pathways is B12 involved in?
4247
methionine; SAM;odd-carbon FA;val; met; ile; thr
4248
Q2125:What two vitamins cause megaloblastic anemia?
4249
B12 and folic acid
4250
Q2126:What is the MCC of B12 def?
4251
pernicious anemia
4252
Q2127:What are other causes of B12 def.?
4253
aging; poor nutrition; bacterial overgrowth of terminal ileum;resection of terminal ileum secondary to Crohn's DZ;chronic pancreatitis;vegans;infection with D. Latum
4254
Q2128:What is the difference between B12 and folic acid def.?
4255
B12 has progressive peripheral neuropathy
4256
Q2129:What enzymes are involved with B6 vitamin?
4257
B6 is pyridoxine;Aminotransferases;AST (GOT);ALT (GPT);Lamba-Aminolevulinate synthase
4258
Q2130:What pathways is B6 involved in?
4259
protein catabolism;heme synthesis
4260
Q2131:What is the MCC of vit. B6 def.?
4261
isoniazis therapy
4262
Q2132:What do you find in B6 def.?
4263
sideroblastic anemia;cheilosis and stomatitis;convulsions
4264
Q2133:What is B2 vitamin?
4265
RI BO flavin
4266
Q2134:What cofactors are derived from B2?
4267
FAD(H2)
4268
Q2135:What enzymes are involved with B2?
4269
dehydrogenases
4270
Q2136:What findings w/ B2 def?
4271
Corneal neovascularization;Cheilosis;Stomatitis;MagentaColored Tongue
4272
Q2137:What enzymes are involved with vitamin C?
4273
prolyl hydroxylases;Lysyl hydroxylases;DOPAMINE hydroxylase
4274
Q2138:What pathways are involved with vitamin C?
4275
collagen syntehsis;catecholamine synthesis;(absoprtion of Iron from GI tract)
4276
Q2139:What is the MCC of vit. C def?
4277
diet deficient in fruit and green vegetables
4278
Q2140:What vitamin is involved in carboxylation of glutamic acid?
4279
vitamin K
4280
Q2141:What factors are involved in vitamin K?
4281
2; 7; 9; 10 Protein C and S
4282
Q2142:What is vitamin A involved in? Dz?
4283
night blidness;follicular hyperkeratosis;xerophtalmia
4284
Q2143:What is another name for vitamin A?
4285
carotene;involved in retinoic acid and retinol ;ol oic;behave as steroid hormones
4286
Q2144:What part of vitamin A is involved in rod and cone cell division?
4287
Retinal;al
4288
Q2145:What vitamin prevents oxidation of LDL particles?
4289
vitamin E
4290
Q2146:What is another name for vitamin E?
4291
tocopherol
4292
Q2147:What vitamin acts as steroid hormone uptake of dietary Ca+ from gut?
4293
Vitamin D
4294
Q2148:What two disease cause by vitamin D def?
4295
children: Rickets;Adults: Osteomalacia
4296
Q2149:What is the physiologic response to hypocalcemia?
4297
- increase PTH;- PTH binds to proximal tubules;- cAMP activate 1-alpha-hydroxylase;- 1;25 DHCC acts on duodenal epithelial cells;- Zinc finger proteins binds to response elements (in enhancer region of DNA);- induce synthesis of calcium binding proteins
4298
Q2150:What vitamin is toxic in pregnancy?
4299
Vitamin A (Acutane) used to treat ACNE
4300
Q2151:What vitamin D does the skin produce?
4301
cholecalciferol (vitamin D3)
4302
Q2152:What happens to vitamin D in the liver?
4303
25-hydroxylation in the liver
4304
Q2153:What is needed in patients with renal dz; fanconi sx; and genetic deficiency of 1-alpha-hydroxylase?
4305
they all need to be supplemented with 1;25 DHCC;dihydrocolecalciferol;since renal 1-alpha-hydroxylase is not working
4306
Q2154:Patients with liver damage should be given what?
4307
25-DHCC or 1;25 DHCC
4308
Q2155:Liver provides what to vitamin D?
4309
two things;1st cholesterol to skin to make 7dehyrocholesterol;2nd 25-hydroxylation
4310
Q2156:What is the comercial name for a retinoic acid that is teratogenic?
4311
isotretinoin
4312
Q2157:When does vitamin K act?
4313
it is a co-translational modification;it acts during translation
4314
Q2158:What causes vit. K deficiency? (drug)
4315
1) phenylhydantoins during pregnancy ;vit. k deficient baby;2) breast-fed newborns;3) fat malabsoprtion (bile duct occlusin);4) prolong tx w/ antibiotics
4316
Q2159:What is seen in the lab for vit K def?
4317
increase PT;factor II
4318
Q2160:What drug is a direct inhibitor of vit. K?
4319
warfarin and coumadin
4320
Q2161:Inheritance of CF?
4321
Autosomal recessive
4322
Q2162:Inheritance of albinism?
4323
Autosomal recessive
4324
Q2163:Inheritance of alpha-1 antitrypsin deficiency?
4325
Autosomal recessive
4326
Q2164:Inheritance of phenylketonuria?
4327
Autosomal recessive
4328
Q2165:Inheritance of thalassemias?
4329
Autosomal recessive
4330
Q2166:Inheritance of sickle cell anemia?
4331
Autosomal recessive
4332
Q2167:Inheritance of glycogen storage diseases?
4333
Autosomal recessive
4334
Q2168:Inheritance of mucopolysaccharidoses (EXCEPT HUNTER'S)?
4335
Autosomal recessive
4336
Q2169:Inheritance of sphingolipidoses (EXCEPT FABRY'S)?
4337
Autosomal recessive
4338
Q2170:Inheritance of infant polycystic kidney disease?
4339
Autosomal recessive
4340
Q2171:Inheritance of hemochromatosis?
4341
Autosomal recessive
4342
Q2172:Inheritance of Fragile X syndrome?
4343
X-linked recessive
4344
Q2173:Inheritance of Duchenne's muscular dystrophy?
4345
X-linked recessive
4346
Q2174:Inheritance of Hemophilia A and B?
4347
X-linked recessive
4348
Q2175:Inheritance of Fabry's (a sphingolipidosis disease)?
4349
X-linked recessive
4350
Q2176:Inheritance of G6PD deficiency
4351
X-linked recessive
4352
Q2177:Inheritance of Hunter's syndrome (a mucopolysaccharidosis disease)?
4353
X-linked recessive
4354
Q2178:Inheritance of OCULAR albinism?
4355
X-linked recessive
4356
Q2179:Inheritance of Lesch-Nyhan syndrome?
4357
X-linked recessive
4358
Q2180:Inheritance of Bruton's agammaglobulinemia?
4359
X-linked recessive
4360
Q2181:Inheritance of Wiskott-Aldrich syndrome?
4361
X-linked recessive
4362
Q2182:how many chromosomes and autosomes does each cell have?;what is the genetic term?
4363
46 chromosomes;22 pairs of autosomes;1 pair of sex chromosomes;"Diploid"
4364
Q2183:Definition;a chromosome number that is not a multiple of 23 (the normal haploid number)
4365
Aneuploidy
4366
Q2184:(2) ways that a haploid can become aneuploidy
4367
Nondisjunction;(ex - Down's);Anaphase Lag;(monosomy)
4368
Q2185:what most commonly occurs w/ a polyploidy fetus?;give an example of what polyploidy means
4369
spontaneous abortion;Polyploidy = multiples of 23 chromosomes;ex) 69 chromosomes in patient
4370
Q2186:Definition;two acrocentric chromosome are joined by common centromere causing the joining of the long arms (and possible loss of the short arms)
4371
Robersonian Translocation
4372
Q2187:Definition;the normal inactivation of one X chromosome
4373
Lyonization;(creation of Barr Body)
4374
Q2188:How many Barr Bodies;1. XX;2. XY;3. XXXY
4375
XX = 1 barr body;XY = NO barr bodies;XXXY = 2 barr bodies
4376
Q2189:Definition;when the cells in the body have a different genetic make-up (such as random X inactivation in females)
4377
Mosaicism
4378
Q2190:Dx;large forehead; broad nasal bridge; epicanthal folds; Brushfield spots; simian crease;genetic problem?
4379
Down's syndrome;;(Trisomy 21)
4380
Q2191:MCC of Down's syndrome;what is the other cause?;what is the "Familial form"?
4381
Nondisjunction;;(Robertsonian) Translocation;(familial form)
4382
Q2192:MC heart defect w/ Down's syndrome;what is it due to?
4383
Septum primum-type ASD;due to: Endocardial Cushion defect
4384
Q2193:(3) MC complications of Down's syndrome
4385
AAA;ASD;ALL;Alzheimers
4386
Q2194:what is the maternal screening for Down's;1. Alphafetoprotein;2. hCG;3. Unconjugated estriol
4387
AFP = Low;hCG = High;E2 = Low
4388
Q2195:Dx;severe mental retardation; microcephaly; wide-set eyes; low birth weight; round face; unusual cry;genetic problem?
4389
Cri du chat;(deletion: 5p-)
4390
Q2196:Dx;cardiac abnormalities; hypocalcemia; thymic aplasia; abnormal facies; cleft palate;genetic problem?
4391
DiGeorge syndrome;(also called Velocardialfacial synd);(22q11 microdeletion);*signs = CATCH-22
4392
Q2197:Dx;mental retardation; prominent occiput; Micrognathia; Rocker-bottom feet; index finger overlaps 3rd and 4th fingers; Congenital heart dz;genetic problem?
4393
Edwards syndrome;(Trisomy 18 - nondisjunction);*18 = Election = Edwards
4394
Q2198:Dx;mental retardation; microcephaly; Microphthalmia; cleft lip and palate; Polydactyly; rocker-bottom feet;genetic problem?
4395
Patau syndrome;(Trisomy 13 - nondisjunction);13 = Puberty = Patau (= 13 fingers)
4396
Q2199:Definition;disorder when there are at least two Xchromosomes and one or more Y-chromosomes
4397
Klinefelter syndrome
4398
Q2200:Dx;male w/ Atrophic testes; Tall stature; Gynecomastia; decreased testosterone; increased pituitary gonadotropins; male infertility;genetic problem?
4399
Klinefelter syndrome;(maternal meiotic nondisjunction);[Kline felt her TAG him]
4400
Q2201:Dx;Violent behavior; tall; severe Acne
4401
XYY syndrome
4402
Q2202:MCC of Primary Amenorrhea
4403
Turner's syndrome
4404
Q2203:Dx;Short stature; shield-like chest; Amenorrhea; Webbed neck; Ovary replaced by Fibrous Streaks;genetic problem?
4405
Turner's syndrome;(XO w/o Barr bodies);[Turner WAS not feminine]
4406
Q2204:MC cardiac problem w/ Turner's syndrome
4407
Coarctation of the aorta
4408
Q2205:(2) common cardiac defects w/ 22q11 syndromes (DiGeorge)
4409
Truncus Arteriosus;Tetralogy of Fallot;[where all the T's went to;]
4410
Q2206:Dx;mental retardation; long face w/ large jaw; large everted ears; Autism; Macro-orchidism;genetic problem?
4411
Fragile X syndrome;(X-lined defect w/ CGG repeats);[big testicles = X-rated]
4412
Q2207:what is the underlying (biochemical) cause of Fragile X syndrome?;what is unusual about this syndrome?
4413
defect in Methylation of FMR1 gene;X-linked problem that may show signs of retardation in male and female offspring
4414
Q2208:Definition;severity of Dz worsens or age of onset of dz is earlier in succeeding generations;(example)
4415
Anticipation;(Huntingtons)
4416
Q2209:Definition;hereditary disorders in which differing phenotypes occur depending on whether an abnormal gene is of maternal or paternal origin;(examples)
4417
Genomic Imprinting;(Prader-Willi or Angelman)
4418
Q2210:Dx;mental retardation; hypogonadism; hypotonia; behavior problems; uncontrolled appetitie leading to obesity and DM;genetic problem?
4419
Prader-Willi syndrome;(5q11-13 deletion on father's chromosome)
4420
Q2211:Dx;mental retardation; ataxia; seizures; inappropriate laughter;genetic problem?
4421
Angelman syndrome;(5q11-13 deletion on mother's chromosome)
4422
Q2212:Definition;Not all individuals w/ mutant genotype show mutant phenotype
4423
Incomplete penetrance
4424
Q2213:Definition;one gene has greater then one effect on the individual's phenotype
4425
Pleiotropy
4426
Q2214:Definition;a heterozygote produces a nonfunctional altered protein that also prevents the normal gene product from functioning
4427
Dominant Negative mutation;(exerts a Dominant effect)
4428
Q2215:Definition;mutations at different loci can produce the same phenotype;(example)
4429
Locus Heterogenicity;(Albinism)
4430
Q2216:Equation for Hardy-Weinberg population genetics;Disease Prevalence
4431
p^2 + 2pq + q^2 = 1
4432
Q2217:Equation for Hardy-Weinberg population genetics;Allele Prevalence
4433
p+q=1
4434
Q2218:Equation for Hardy-Weinberg population genetics;Heterozygote Prevalence;(p and q on separate alleles)
4435
HP = 2pq
4436
Q2219:type of inheritance;often due to Structural defects
4437
Autosomal Dominant
4438
Q2220:type of inheritance;often due to Enzyme deficiencies
4439
Autosomal Recessive
4440
Q2221:Main sign of;X-linked Recessive
4441
no male-to-male transmission
4442
Q2222:Main sign of;X-linked Dominant
4443
All females are affected by father
4444
Q2223:Lysosomal storage Dz;peripheral neuropathy of hands and feet; angiokeratomas; CV and renal Dz;Enzyme?;inheritance?
4445
Fabry's Dz;(alpha-Galactosidase A);X-recessive
4446
Q2224:Lysosomal storage Dz;hepatosplenomegaly; aseptic necrosis of femur; bone pain; unique macros;Enzyme?
4447
Gaucher's Dz;(Glucocerebrosidase)
4448
Q2225:Lysosomal storage Dz;progressive neurodegeneration; hepatosplenomegaly; cherry-spot on macula;Enzyme?
4449
Niemann-Pick;(Sphingomyelinase)
4450
Q2226:Lysosomal storage Dz;progressive neurodegeneration; developmental delay; cherry-spot macula; lysozymes w/ onion skin;Enzyme?
4451
Tay-Sachs Dz;(Hexosaminidase A)
4452
Q2227:Lysosomal storage Dz;peripheral neuropathy; developmental delay; optic atrophy;Enzyme?
4453
Krabbe's Dz;(beta-Galactosidase);[Krabs have small eyes]
4454
Q2228:Lysosomal storage Dz;developmental delay; gargoylism; airway obstruction; corneal clouding;Enzyme?
4455
Hurler's syndrome;(Alpha-L-IDuronidase);[A Lit-ID in Quasimoto caused him to HURL the GARGOYLE]
4456
Q2229:Lysosomal storage Dz;mild developmental delay; mild gargoylism; airway obstruction; aggressive behavior;Enzyme?;inheritance?
4457
Hunter's syndrome;(Iduronate Sulfatase);[Hunter's Aggressive ID Shot the X];X-recessive
4458
Q2230:Familial Dyslipidemia type;Inc Chylomicrons only;pathology?
4459
Type I;(hyperchylomiconemia);Lipoprotein Lipase deficiency
4460
Q2231:Familial Dyslipidemia type;Increased LDL only;(high blood cholesterol);pathology?
4461
Type IIa;(hypercholesterolemia);Low LDL receptors
4462
Q2232:Familial Dyslipidemia type;Increased LDL and VLDL;pathology?
4463
Type IIb;(combined hyperlipidemia);Hepatic overproduction of LDL
4464
Q2233:Familial Dyslipidemia type;Increased IDL; VLDL;pathology?
4465
Type III;(dysbetalipoproteinemia);Altered Apo-E
4466
Q2234:Familial Dyslipidemia type;Increased VLDL only;(high blood TG);pathology?
4467
Type IV;(hypertriglyceridemia);Hepatic overproduction of VLDL
4468
Q2235:Familial Dyslipidemia type;Increased VLDL; chylomicrons;pathology?
4469
Type V;(mixed hypertriglyceridemia);Inc production or Dec clearance of VLDL and chylomicrons
4470
Q2236:Autosomal Dominant Dz;cafe-au-lait spots; neural tumors; pigmented iris hamartomas; scoliosis
4471
Neurofibromatosis Type 1;(Von Recklinghausen Dz);(chrom 17)
4472
Q2237:Autosomal Dominant Dz;bilateral acoustic neuromas; optic pathway gliomas; juvenile cataracts
4473
Neurofibromatosis Type 2;(chrom 22)
4474
Q2238:Autosomal Dominant Dz;facial lesions; hypopigmented "ash leaf spot" on skin; cortical and retinal hamartomas; seizures; mental retardation
4475
Tuberosus Sclerosis
4476

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IVMS Genetics Flash Facts

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Genetics Flash Facts

Q0001:What does it mean for genetic code to be commaless?

Genetics Flash Facts

Read from a fixed starting point as a continuous sequence of bases

Genetics Flash Facts

Q0002:What does it mean for genetic code to be nonoverlapping?

Genetics Flash Facts

Read from a fixed starting point

Genetics Flash Facts

Q0003:What does it mean for genetic code to be universal?

Genetics Flash Facts

Genetic code is conserved throughout evolution

Genetics Flash Facts

Q0004:What are the properties of the genetic code?

Genetics Flash Facts

1. Unambiguous;2. Degenerate/redundant;3. Commaless/nonoverlapping;4. Universal

Genetics Flash Facts

Q0005:When is genetic code not commaless/nonoverlapping?

Genetics Flash Facts

Genetics Flash Facts

Q0006:What are exceptions to universality of genetic code?

Genetics Flash Facts

1. Mitochondria;2. Archaebacteria;3. Mycoplasma;4. Some yeasts

Genetics Flash Facts

Genetics Flash Facts

Genetics Flash Facts

Q0008:What kind of mutation is called: silent

Genetics Flash Facts

Genetics Flash Facts

Q0009:What mutation is masked by tRNA wobble?

Genetics Flash Facts

Genetics Flash Facts

Genetics Flash Facts

Missense mutation (not conservative)

Genetics Flash Facts

Genetics Flash Facts

Conservative missense mutation

Genetics Flash Facts

Q0012:What kind of mutation is called: missense

Genetics Flash Facts

Genetics Flash Facts

Q0013:Name that mutation: Change resulting in early stop codon

Genetics Flash Facts

Nonsense mutation;(Mnemonic: Stop the nonsense!)

Genetics Flash Facts

Q0014:What kind of mutation is called: nonsense

Genetics Flash Facts

Change resulting in early stop codon;(Mnemonic: Stop the nonsense!)

Genetics Flash Facts

Genetics Flash Facts

Frame shift mutation

Genetics Flash Facts

Q0016:What kind of mutation is called: frameshift

Genetics Flash Facts

Genetics Flash Facts

Q0017:Mutations ordered by decreasing severity of damage

Genetics Flash Facts

1. Nonsense;2. Missense;3. Silent

Genetics Flash Facts

Q0018:Eukaryotic genome: single/multiple origins of replication

Genetics Flash Facts

Genetics Flash Facts

Q0019:Prokaryotic genome: single/multiple origins of replication

Genetics Flash Facts

Genetics Flash Facts

Q0020:Eukaryotic genome: Trigger for replication

Genetics Flash Facts