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BIOCHEMISTRY SPECIAL TISSUES January 9, 2013

Dr. Zharla Flores



Trans by: LOYS FORCADELA JOSE FRANCIA
1

EXTRACELLULAR MATRIX

FUNCTION:
o Provide CHEMICAL and MECHANICAL STRUCTURE of our body
o Role in DEVELOPMENT of BODY or ORGANS
o Role in INFLAMMATION and SPREAD of CANCER CELLS

MAJOR CLASSES of EXTRACELLULAR MATRIX

o STRUCTURAL PROTEINS
Collagen
Elastin
Fibrillin

o SPECIALIZED PROTEINS
Fibronectin
Laminin

o PROTEOGLYCAN


EXPLANATION:
o Extra-cellular matrix
o Provides MECHANICAL and CHEMICAL STRUCTURE in our body diverse characteristics
o They play an important role in the DEVELOPMENT of BODY or ORGANS
o As well as in INFLAMMATION or SPREAD of CANCER CELLS
o We have THREE MAJOR CLASSES of extracellular matrix
o pag sinabing STRUCTURAL PROTEINS ang kasama dito ay collagen, elastin and fibrillin ( not sure kung nasabi nya nga
fibrillin )
o pag SPECIALIZED PROTEINS naman,, ang kasama dito ay fibronectin at laminin..
o PROTEOGLYCAN


STRUCTURAL PROTEINS

COLLAGEN

o MOST ABUNDANT PROTEIN in all Tissues
o Approximately 1000 amino acids

o AMINO ACID COMPONENTS:
Glycine
Hydroxyproline
Proline

GLYCINE versus ALANINE
ALANINE
o Bigger Molecule
o Addition on the chain will create a BULKIER chain
o NO ROOM for Hydroxyproline and proline to twist
GLYCINE
o Smaller Molecule
o TWISTING of the chain possible


o EXPLANATION:
Ang collagen ang most abundant protein in all tissues
Contains approximately 1000 amino acids...
BIOCHEMISTRY SPECIAL TISSUES January 9, 2013
Dr. Zharla Flores

Trans by: LOYS FORCADELA JOSE FRANCIA
2
Pag pinag uusapan daw ay collagen, we are talking about different kinds of amino acids particularly these 3 amino
acids (Glycine, Hydroxyproline, and proline )
If you would put alanine compared to glycine... yung alanine is a bigger molecule than glycine at bigger amino acid
din siya compared sa glycine... diba nga daw,,, glycine is the smallest and simplest amino acid ..... so kapag naglagay
ka ng alanine as an amino acid,,, together with the hydroxyproline and proline.... you would create a bulkier chain,
compared to your glycine na kung saan magkakaroon pa siya ng room for hydroxyproline and proline to twist...



o FUNCTION of the AMINO ACIDS
Proline and Hydroxyproline
RIGIDITY of Collagen molecule
HYDROXYPROLINE
o Stabilize the triple helix and body temperature
o Helps form WATER BRIDGES that stabilize the triple helix at body temperature



EXPLANATION:
Ano daw ba ang purpose ng proline at hydroxyproline
Tapos ano rin daw ang purpose ng lysine at hydroxylysine..??
ang purpose daw nito is to confer the rigidity of collagen molecule
Aside from that,,, hydroxyproline helps to stabilize the triple helix and body temperature
So ibig sabihin,,, kung may lagnat daw,,, wag daw mag alala na after nung fever ay magiging saggy na
yung balat kasi daw collagen contains hydroxyproline na nag sstabilize ng triple helix ng collagen...


o SYNTHESIS of COLLAGEN
Amino Acids involved:
Glycine
Hydroxyproline
o Rigidity of collagen moleculre
o Helps forms water bridges that stabilizes the triple helix at body temperature
Proline

SYNTHESIS (Manual and Harper)
INTRACELLULAR STEPS
o Cleavage of signalpeptide
o Hydroxylation of prolyl residues and some lysyl residues; glycosylation of some hydroxyl
lysyl residues
o Formation of intra chain and interchain SS bonds in extension peptides
o Formation of triple helix
EXTRACELLULAR STEPS
o Cleavage of amino and carboxyl terminal propeptides
o Assembly of collagen fibers in quarter staggered alignment
o Oxidative deamination of -amino groups of lysyl and hydroxylysyl residues to aldehydes
o Formation of intra- and inter chain cross-links via Schiff bases and aldol condensation
products

SYNTHESIS (other source)
Inside the cell
o Two types of peptide chains are formed during translation on ribosomes along the rough
endoplasmic reticulum (RER): alpha-1 and alpha-2 chains.
o These peptide chains (known as preprocollagen) have registration peptides on each end and
a signal peptide.
o Polypeptide chains are released into the lumen of the RER.
o Signal peptides are cleaved inside the RER and the chains are now known as pro-alpha chains.
o Hydroxylation of lysine and proline amino acids occurs inside the lumen. This process is
dependent on ascorbic acid (Vitamin C) as a cofactor.
o Glycosylation of specific hydroxylysine residues occurs.
o Triple helical structure is formed inside the endoplasmic reticulum from each two alpha-1
chains and one alpha-2 chain.
BIOCHEMISTRY SPECIAL TISSUES January 9, 2013
Dr. Zharla Flores

Trans by: LOYS FORCADELA JOSE FRANCIA
3
o Procollagen is shipped to the Golgi apparatus, where it is packaged and secreted by
exocytosis.
Outside the cell
o Registration peptides are cleaved and tropocollagen is formed by procollagen peptidase.
o Multiple tropocollagen molecules form collagen fibrils, via covalent cross-linking (aldol
reaction) by lysyl oxidase which links hydroxylysine and lysine residues. Multiple collagen
fibrils form into collagen fibers.
o Collagen may be attached to cell membranes via several types of protein, including
fibronectin and integrin.




























o EXPLANATION:
how collagen is synthesized?
so meron daw intracellular matrix and extracellular matrix
So intracellularly
Your Rough Endoplasmic Reticulum would form your PRO ALPHA COLLAGEN
This will be aligned by forming disulfide bridges para makabuo ng N- terminal at Carboxyl terminal
At from there,,, you will have your triple helix pro alpha chain
Now ito ay mahahydrolyzed further by your _____ hydroxylase with the pre cursor / cofactor alpha keto
glutarate, oxygen, iron, and ascorbic acid..
yung pro alpha chain mo,,, as it undergoes disulfide bonding It would be process further dun sa golgi
complex...
tapos from golgi complex,, siya ay ma EEXOYTOSE dun sa cell
going out from the extracellular matrix na kung saan an enzyme na ang pangalan ay PRO COLLAGEN PEPTIDASE
ay nag hihintay dun sa pro alpha collagen para magin pro collagen ...
tandaan na kailangan ng tulong ng calcium and zinc...
so etong pro collagen na to na triple helix would be in the form of fibrins....
so putol putol na daw siya,,, pag putol putol na daw siya,, pwede daw siyang mag hiwalay,,
it should be linked together by your lysol oxidase ( not sure sa spelling ) tapos ang cofactor naman ay
copper


o TYPES of COLLAGEN
Highlighted red sa ppt
Pero wala naming nakahighlight sa sinend nya
So ang basis na lang is ung mga Types nasa Clinical Significance
BIOCHEMISTRY SPECIAL TISSUES January 9, 2013
Dr. Zharla Flores

Trans by: LOYS FORCADELA JOSE FRANCIA
4

o CLASSES of COLLAGEN
MOST IMPORTANT: Anchoring Fibrils













o CLINICAL SIGNIFICANCE of COLLAGEN

OSTEOGENESIS IMPERFECTA
CAUSE:
o Mutation of Collagen Type I
MANIFESTATION:
o Blue Gray Sclera (pathognomonic sign)
Reason:
Sclera rich in Collagen Type I
Thin amount of Collagen Type I
Choroidal plexus seen because of thin collagen type I
o Normal dentition but teeth easily fractured if eating hard food
o High probability of bone fracture


EXPLANATION:
o OSTEOGENESIS IMPERFECTA

Ito ay mainly affected by mutation of collagen type I
Dito daw ay may blue gray na sclera ( pathognomonic sign )
blue gray ang sclera nila kasi,,, collagen is very abundant sa sclera... so thin daw yung
collagen type I... pag very thin daw yung collagen type I mo,,, magiging visible na
daw yung choroidal plexus mo.....
Dentition would appear normal pero pag kumain sila ng hard substances
mabubungi agad sila... madali silang mafracture


EHLERS DANLOS SYNDROME
CAUSE:
o Defect in Collagen Type I
MANIFESTATION:
o Hyperelasticity of skin
o Hypermobility of joints
o Hyperextensibility of joints
TYPES:
o Type 4
MOST DANGEROUS
Affects Vasculature
o Type 1 and 2, and 6
Manifestation:
Hyperelasticity
Hypermobility


EXPLANATION:
o EHLER DANLOS SYNDROME
BIOCHEMISTRY SPECIAL TISSUES January 9, 2013
Dr. Zharla Flores

Trans by: LOYS FORCADELA JOSE FRANCIA
5
type 1-10 collagen ang affected dito.
Eto daw yung mga nakikita sa circus na pinapasok yung sarili sa loob ng suitcase
hyperextensibility of the joints,,,hyper elasticity of skin, hypermobility of joints
So yung type I and type 2 daw ay laging mag pepresent ng hypermobility pero
type 4 is the most dangerous because it would affect the vascular na kung saan
makakakita ka daw ng pasyente na may abdominal aneurism


EPIDERMOLYSIS BULLOSA
CAUSE:
o Collagen Type VII
o No production of Anchoring fibrils
Anchoring fibrils
Connects the epidermis and dermis
MANIFESATION:
o Bullae
Fluid present between the epidermis and dermis


EXPLANATION:
o EPIDERMOLYSIS BULLOSA
dito daw,,, ang affected ay type 7 collagen
Ang pasyente daw ay presented with a lot of bullae ( parang paso )
Pag pumutok daw yung bullae,,, pwedeng mag cause ng infection
Kung may genetic defect ka daw sa collagen type 7... decrease daw ang production
ng anchoring fibrils
Ang mga anchoring fibrils daw are those fibrils that would connect your epidermis
tou your dermis
So kung walang mag aanchor sa kanila to be connected to one another..... you will
have bullae


ACHONDRODYSPLASIA
CAUSE:
o Genetic defect of Collagen Type II and X
MANIFESTATION:
o Larger head / forehead
o Shorter Extremities
Versus DWARFISM
o CAUSE:
Decrease or Low Growth Hormones level
o MANIFESTATION:
Symmetrical growth
Head proportional to extremities


EXPLANATION:
o ACHONDRODYSPLASIA
Genetic defect ng type 2 and type 10
So ano daw ba ang difference ng achondrodysplasia at dwarfism??
Ang achondrodysplasia daw ay different from dwarfism in a way that
achondrodysplasia is secondary to defect of collagen type 2 and 10
Yung dwarfism naman ay decrease or low growth hormone levels
Without doing any diagnostic labs,, yung dwarfism daw,, symmetrical yung
growth
Pantay yung ulo nya sa extremities
But in achondrodysplasia you would notice that the patient has a very large
/ prominent forehead tapos short yung extremities... ( si dagul daw ang
example nito

MENKES DISEASE
CAUSE:
BIOCHEMISTRY SPECIAL TISSUES January 9, 2013
Dr. Zharla Flores

Trans by: LOYS FORCADELA JOSE FRANCIA
6
o Defect in copper transport
MANIFESATATION:
o No lysyl oxidase
Copper is the cofactor of Lysyl oxidase
Links fibril
o Neurological Symptoms
Deficiency in Cytochrome Oxidase
ATP production affected
o Twisted hair and Hypopigmented hair
Copper is cofactor of Melanin


EXPLANATION:
o MENKES DISEASE
Secondary to a defect in copper transport
So bakit to included sa collagen diseases?? kasi daw ang copper is a cofactor for lysil
oxidase that would link together your fibrils which is excise ( not sure kung excise
yung word na sinabi ) by your procollagen peptidase
So without copper,,, edi walang lysil oxidase
Aside from lysil oxidase... kailangan din nung ibang enzymes ang copper like
cytochrome oxidase
Kung wala daw cytochrome oxidase magkakaron ka daw ng neurological symptoms
kasi magiging apektado yung ATP production
Yung mga pasyente daw ay magkakaron ng twisted hair kasi copper is also a
cofactor in the production of melanin.
So kung wala kang copper,,, magkakaron ka nga ng twisted hair as well as hypo
pigmented hairs




GLOMERULO NEPHRITIS
CAUSE:
o Defect in Type IV collagen
Component of Basement membrane
Laminin
Maintenance of charge
Perlican
Heparan sulfate
Pearls of string
Role on chondrogenesis


EXPLANATION:
o GLOMERULO NEPHRITIS
Basically,, the basement membrane of the renal glomerulus is composed of 4
structures
We have the type 4 collagen, the laminin, nitrogen _____ aside from that laminin also
plays a role wherein it will maintain the charges together with the nitrogen and
(perlican)
Nitrogen and entactin plays a role wherein it would attach the type 4 collagen to the
perlican or heparan sulfate
Ang perlican dahil nga heparan sulfate siya
It also plays a role in chondrogenesis ... so kung may disturbance ka sa structure ng
glomerular basement membrane,, there would be leakage



BIOCHEMISTRY SPECIAL TISSUES January 9, 2013
Dr. Zharla Flores

Trans by: LOYS FORCADELA JOSE FRANCIA
7
ELASTIN

o COMPARISON versus COLLAGEN
One genetic type (vs collagen ~20 types)
NO triple helix
NO repeating structure
NO hydroxylysine
NO carbohydrate
WITH Intramolecuar Desmosine cross-links
NO Extension peptides present

o FUNCTION
Skin Elasticity



o EXPLANATION:
Collagen vs elastin
(CHECK TABLE SA HANDOUTS )
Ang elastin ay one genetic type lang compared to collagen na madaming genetic types
Tapos ag elastin ay hindi nag foform ng triple helix
Wala ring glycine, hydroxyproline at proline ang elastin
Sa collagen,,, yung cross links nya linked together by intramolecular aldol ( not sure sa narinig ) in comparison to
elastin naman which is desmosine
Sa collagen,, it has peptides.. meron siyang extension of peptides during biosynthesis kasi meron siyang pro
collagen peptidase
Yung elastin, it does not have extension of peptides..... so basta pag nakita nyong walang triple helix
Elastin yun.. so ano bang importance ng elastin???
Minemaintain nya yung elasticity ng skin... tapos yung collagen naman,, inistabilize nya yung skin... without
elastin to maintain the elasticity of the skin it will present many folds or saggy skin talaga...


o CLINICAL SIGNIFICANCE:

CUTIS LAXA
CAUSE:
o Deletion of Elastin gene
MANIFESATION:
o Looks Old for their Age

SCLERODERMA
CAUSE:
o Excessive production of Elastin
MANIFESATION:
o Tightening of the skin
o Inability to move the skin
Starts from the skin to the interior of the body
Smile-patients
o Lesions on the skin
COMPLICATIONS:
o Dyspagia
o Dyspnea


EXPLANATION:
o CLINICAL SIGNIFICANCE:
Cutis laxa
They look old for their age
Mababa ang elastin
Scleroderma
Too much elastin... this is increase tightening of the skin
Kadalasan daw,,, pupunta yung pasyente sa inyo na nakasmile
BIOCHEMISTRY SPECIAL TISSUES January 9, 2013
Dr. Zharla Flores

Trans by: LOYS FORCADELA JOSE FRANCIA
8
Yung mga kamay,, hindi maikilos,,, tapos may mga sugat.
So sa sleroderma ang unang affected ay skin tapos mag kakaron ng
dysphagia
Tapos magkakaron ng dyspnea...



FIBRILLIN

o LARGE GLYCOPROTEIN
o COMPONENTS OF: Microfibrils
o EXCRETED BY: Fibroblast
o FOUND:
Lens
Periosteum
Aorta


EXPLANATION:
Ito ay structural protein,, characterized by a large glycoprotein na structural component ng microfibril
It is secreted by the extracellular matrix by fibroblast
Tapos naiincorporate sa microfibrils... makikita to madalas sa lens, periosteum and aorta....


o CLINICAL SIGNIFICANCE:

MARFAN SYNDROME
CAUSE:
o Low fibrillin
MANIFESTATION:
o Excessive amount of Cytokine Tumor Growth Factor
Fibrillin doesnt bind to Cytokine
Cytokine active during inflammation
o Cause inflammation on the lens, periosteum, aorta
DILATED Aorta
SUBLUXATION of Lens
Lens easily dissociated
o Tall height
Upper extremities longer than lower extremities
o STEINBERGs SIGN
4 fingers closed around the thumb
Positive: Thumb exceeds the 4 fingers


EXPLANATION:
MARFAN SYNDROME
o Pag pinag uusapan ang marfan syndrome...ang pinag uusapan natin ay fibrillins...
o kung yung fibrillin mo ay very low in amount,, hmmm ganto kasi,, pag normal si fibrillin,,
dumidikit lang siya kay cytokine... ay ano ba ang role ni cytokine?? diba si cytokine ay
kumakana during inflammation,, kung may inflammation ka,, you have increase levels of
cytokine.. because of normal levels of fibrillin magbabind lang sila sa cytokines tapos
mapeprevent ang inflammation
o kung low ang fibrillin edi magkaakron ng excessive amount of cytokine tumor growth
factors...
o etong cytokine tumor growth factors will increase inflammation on lens, periosteum and
aorta...
o that's why among marfan's syndrome,,they would be characterized as having dilated aorta..
o aside from that,,,, there is subluxation of the lens wherein the lens is supposed to be on the
center ,,,
o pero sa pasyente na to mabilis mag dislocate yung lens...
BIOCHEMISTRY SPECIAL TISSUES January 9, 2013
Dr. Zharla Flores

Trans by: LOYS FORCADELA JOSE FRANCIA
9
o so meron tayong tinatawag na steinberg's sign... so paano mo to makikita?? you will ask the
patient to close his fist... ipoposition nya yung thumb nya papaloob nung apat nyang fingers,,,,
kapag lumagpas yung thumb,, positive steinberg's sign yun.. ( uyyyy itatry nya yan hehehe).....
ang pasyente ay may very tall height din wherein yung upper extremities nya ay mas mahaba
pa compared to lower




SPECIALIZED PROTEIN

FIBRONECTIN

o Major glycoprotein of the ECM
o NO CLINICAL SIGNIFICANCE



o EXPLANATION:
Fibronectin
Wag itong pansinin
Kumain ng pansit habang mainit ang sipit na malapit mapunit



PROTEOGLYCANS and GLYCOSAMINOGLYCANS

PROTEOGLYCANS

o Proteins
o Contains covalently linked Glycosaminoglycans

GLYCOSAMINOGLYCANS

o COMPONENTS:
Amino Sugar
Repeating Dissacharide

o Classified according to hexosamine unit
Glucosaminoglycans
Heparin
Heparin sulfate
Hyaluronic acid
Galactosaminoglycans
Chondroitin sulfae
Dermatan sulfate
ALL GAGs contain sulfate EXCEPT hyaluronic acid
Keratan sulfate sugar acid











BIOCHEMISTRY SPECIAL TISSUES January 9, 2013
Dr. Zharla Flores

Trans by: LOYS FORCADELA JOSE FRANCIA
10
o CLINICAL SIGNIFICANCE

HURLER SYNDROME
CAUSE:
o Deficiency in ALPHA 1 IDURONIDASE
MANIFESTATION:
o Course feature of the face
o Protrusion of the abdomen
o Bullet shaped fingers
o Corneal clouding


EXPLANATION:
o HURLERS SYNDROME
All of the mucopolysaccharidosis pag daw nakita sila,, pare pareho daw sila ng itsura
There will be protrusion of abdomen and bullet shaped fingers
Ito ay secondary to a defect or deficiency of ALPHA L IDURONIDASE ( pacheck
spelling )
Ang tandaan daw dito,,, may corneal clouding



HUNTER SYNDROME
CAUSE:
o Defect in IRUDONATE SULFATASE
X-linked inherited (males only)
NO Corneal Clouding


EXPLANATION:
o HUNTER SYNDROME
Hunter is an X linked inherited
They don't suffer corneal clouding
o Deficient sila nung enzyme na IDURONATE SULFATASE (sabi sa napakagaling na wikipedia,,,
iduronate 2 sulfatase )


MORQUIO SYNDROME
CAUSE:
o Defect in GALACTOSAMINE 6 SULFATASE
MANIFESTATION:
o Knocked knees
Wide acetabulum


EXPLANATION:
o MORQUIO SYNDROME
They have knocked knees ( not sure kung eto yung tinutukoy ni dra. )
Yung knocked knees is secondary to very wide acetabulum
So kung wide yung acetabulum naglalaro lang daw yung femoral head dun sa loob...
eto daw ay secondary to GALACTOSAMINE 6 SULFATASE....

MORATEAUX-LAMY
CAUSE:
o Defect in ARYLSULFATASE B
MANIFESTATION:
o GAGs dont accumulate in the brain
o Cox Vaga (pike)


EXPLANATION:
BIOCHEMISTRY SPECIAL TISSUES January 9, 2013
Dr. Zharla Flores

Trans by: LOYS FORCADELA JOSE FRANCIA
11
o MAROTEAUX-LAMY
Among the mucopolysacchradosis,,, sila lang ang ang hindi apektado ng gags sa
brain
So ibig sabihin,,, yung gags do not accumulate in the brain.... kaya meron silang
normal intelligence


SLY SYNDROME
CAUSE:
o Defect In BETA GLUCORONIDASE
MANIFESATION:
o Corneal clouding
o Hepatosplenomegaly
o Umbilical hernia



EXPLANATION:
o SLY SYNDROME
Secondary to sa defect in BETA GLUCORONIDASE
Meron siyang hepatospleno megaly
minsan daw may umbilical hernia
May corneal clouding din daw... parang bata palang may cataract na ( sinabi nya "
parang" di ako sure kung may cataract )



BONES

COMPONENTS of a BONE


















TYPE of BONE CELLS
o OSTEOBLAST
Bone FORMATION
UNI-cellular
o OSTEOCLAST
Bone RESORPTION
MULTI-cellular
WITH:
RUFFLED BORDER
o With PROTONS (acidic)
o Where Bones go during resorption
o Bones resorped


BIOCHEMISTRY SPECIAL TISSUES January 9, 2013
Dr. Zharla Flores

Trans by: LOYS FORCADELA JOSE FRANCIA
12


BONE METABOLISM REGULATION
o PTH



o EXPLANATION:
BONE
Composed siya ng two components
o Organic and inorganic components
Tingnan sa handouts yung organic saka inorganic

One is mainly composed of two types of cells,,,OSTEOBLAST and OSTEOCLAST
Ang osteoclast for bone resorption and ang osteoblast ay para sa bone formation
Osteoclast are multicellular cells in comparison to osteoblast na unicellular cells
Aside from that paano yung bone resorption?
Ung osteoclast daw ay very special cell which contains a ruffled border
This ruffled border contains a lot of protons na acidic in nature
now during resorption of bones.... your bones will go to these proton rich ruffled border and then it
would be excluded out from the microenvironment extracellular matrix which contains low pH and
lysosomal enzymes
So that's why the bone resorbs,,tapos babalik siya sa capillaries... kaya equal sila
Kung yung osteoblast ay nangyayari... ganun lang din yung osteoclast..... ganto daw dapat para hindi
magkaroon ng osteopetrosis



CLINICAL SIGNIFICANCE:

o OSTEOPOROSIS
Alteration of various factors:
Hormones
Cytokines
Nutritional
MANIFESTATIONS:
Rigidity of Bones
o Collagen Type I lost
Hip Fracture
o MOST SERIOUS KIND of FRACTURE
o Femoral Artery trapped
OSTEOCLASTIC ACTIVITY > OSTEOBLASTIC ACTIVITY




EXPLANATION:
OSTEOPOROSIS
o This is mainly cause by alteration by various factors such as hormones, cytokines ATBP
o Resorption of bone with loss of matrix mainly collagen type 1
o So collagen type 1 ay very abundant in bones
o If you have alteration in the various factors,,,there will be rigidity of the bones tapos maaari
itong magresulta sa fracture
o Hip fracture daw ang most serious kind ng fracture sa mga pasyenteng may osteoporosis kasi
maaaring matrap si femoral artery
o Kapag mas marami ang osteoclastic activity compared sa osteoblastic activity,,, it yun nga ay
osteoporosis

o OSTEOPETROSIS
OSTEOBLASTIC ACTIVITY > OSTEOCLASTIC ACTIVITY


BIOCHEMISTRY SPECIAL TISSUES January 9, 2013
Dr. Zharla Flores

Trans by: LOYS FORCADELA JOSE FRANCIA
13
o DWARFISM
CAUSE:
Decrease level of growth hormone

o RICKETS
CAUSE:
DEFICIENCY of VITAMIN D (among children)
MANIFESTATION:
Curved Radius
Curved Femur
Curved Tibia and Fibula


o OSTEOMALACIA
CAUSE:
DEFICIENCY of VITAMIN D (among adults)
MANIFESTATION:
Affects the appendicular skeleton

o PFEIFFER SYNDROME
CAUSE:
Defect in FGFR1 (Fibroblast Growth Factor Receptor 1)
MANIFESTATION:
Exopthalmos
o Nakaluwa ang mata
Clover-shaped head
Patients die at young age

o CROUZON SYNDROME
CAUSE:
Defect in FGFR2 (Fibroblast Growth Factor Receptor 2)
MANIFESTATION:
Exopthalmos
Very Small Chin


CARTILAGE

Principal protein:
o Type II collagen
Additional Component:
o Collagen Type IX
Proteoglycan: Aggrecan
Avascular Tissue
o Nutrients absorbed via diffusion



EXPLANATION:
o Cartilage
o Basically composed of type 2 collagen
o Aside from collagen type 2, component din si collagen type 9...ang cartilage ay avascular tissue... nakukuha nya yung
nutrients nya via diffusion nung synovial fluid.....


SWEAT

ECCRINE GLAND
o Clear, odor free, colorless, slightly acidic fluid
o COMPOSITION:
Sodium Chloride
BIOCHEMISTRY SPECIAL TISSUES January 9, 2013
Dr. Zharla Flores

Trans by: LOYS FORCADELA JOSE FRANCIA
14
Potassium
Bicarbonate
o Almost full water

APOCRINE GLAND
o Thicker, more viscous
o Milky consistency
o Location:
Groin
Anal Region
Axilla
Areola of breast



EXPLANATION:
o Eccrine gland
Type of gland that produce,, clear, odor free na sweat
Composed of sodium chloride, potassium and bicarbonate
If you have raised levels of sodium chloride in sweat pwede tong diagnosis ng cystic fibrosis.....eto yung sa mga
baby....

o Apocrine gland
Pag matanda... this will produce,, thicker,, more viscous and with milky consistency sweat
located to sa groin, anal region, axilla, areola of the breast


CLINICAL SIGNIFICANCE
o CYSTIC FIBROSIS
Pag daw suspected mo na may cystic fibrosis ang pasyente
Mag coconduct ka daw ng sweat test.. ito ay ginagawa by placing special patch on arm
Tapos maglalagay daw ng electrode dun
This electrode will stimulate the skin to sweat
Upon sweating,,, icocollect nung patch yung sweat
Iocollect yung sweat tapos imemeasure yung salt content.


CLINICAL SIGNIFICANCE
o PEDAGRA
Gout
GOUT
Monosodium urate crystals
More on alcoholics
PSEUDOGOUT
Calcium pyrophosphate

TEARS

COMPOSITION:
o Sodium
o Potassium
HIGHER than PLASMA
o Chloride
o Bicarbonate








BIOCHEMISTRY SPECIAL TISSUES January 9, 2013
Dr. Zharla Flores

Trans by: LOYS FORCADELA JOSE FRANCIA
15
CLINICAL SIGNIFICANE:

o SJOGRENS SYNDROME
SCHIRMERS TEST
Tear test
Result:
o Less that 6mm aftter 5 minutes Very Dry eyes
MANIFESTATION:
Severe DRY eyes
DRY mouth
Tooth Decay
Dry Tongue


EXPLANATION:
Sjogren's syndrome
o Ang SCHIRMER'S test ay test for tears
o So kung dry n dry yung eyes nung patient when you do a schirmer's test
o If the wetting of shirmer's paper is less that 6 mm after 5 minutes.... yun daw ay very dry eyes
o Usually,,, sjogren's syndrome would present primarily with severe dry eyes
o apos meron din dry mouth that causes tooth decay,,, dry tongue din..




SYNOVIAL FLUID

Clear viscous ultra filtrate of plasma
GLUCOSE LEVEL:
o DECREASE: INFLAMMATION or SEPTIC DISORDER


CEREBROSPINAL FLUID

PROTEIN CONTENT: LESS (vs. plasma)
CALCIUM LEVEL: LESS THAN 50% (vs. plasma)
GLUCOSE LEVEL: LESS THAN 60% (vs. plasma)
CARBON DIOXIDE: diffuse RAPIDLY
BICARBONATE: diffuses SLOWLY


EXPLANATION:
o cerebrospinal fluid
o To differentiate CSF from plasma,,,, the protein contents os CSF is less than 1 % compared sa plasma
o The calcium levels are less than 50 % compared to plasma
o Tapos sa glucose naman,, less than 60 % compared to plasma... carbon dioxide diffuses rapidly tapos mabagal naman mag
diffuse ang bicarbonates...


SEMEN

STAGES of EJACULATION (YOOOWWWNNN!) (kung gusto ng demo text langhahaha)
o 4 STAGES
GLANDS:
o COWPERS GLAND
Production of Semen
o LITTRE GLAND
o PROSTATE GLAND
o SEMINAL VESCILE
SEMEN vs. PLASMA
BIOCHEMISTRY SPECIAL TISSUES January 9, 2013
Dr. Zharla Flores

Trans by: LOYS FORCADELA JOSE FRANCIA
16
o CALCIUM LEVEL: LOW (vs. plasma)
o MAGNESIUM LEVEL: LOW (vs. plasma)
o HIGH FRUCTOSE CONTENT (Semen)


AQUEUOS HUMOR

FORMED in the EYE
PRODUCTION:
o Average: 2 -3 micro liters each minute
SECRETED BY:
o Ciliary Process
INTRAOCULAR PRESSURE
o NORMAL: 12 20 mmHg

CLINICAL SIGNIFICANCE:
o GLAUCOMA
Pag yung acute closure angle type ng glaucoma,,, emergency to..
An eye with glaucoma,, there is an increase pressure inside.
May severe eye pain dahil sa increase pressure...



SKIN

Approximately 2 square meters in area... it provides 5-6 kg mass percent of the body weight
Pag daw marami ang ceramide mo sa skin,, ito ay sa mga pasyenteng may atopic dermatitis
o Pag marami daw free fatty acids,,, psoariais naman,,...
Dermis is composed of type 1 collagen,, abundantly
Tapos meron ding type 3,5 and 7
Kasi type 7 nga yung nag aanchor sa epidermis and dermis.... it is also composed of elastin fibers for elasticity

Habang bata ka pa,,,, you have very good production of collagen,,, may very good quality ka rin ng elastin... may abundant amount
ka rin ng subcutaneous tissue.... but as the patient grows old,,, the collages will start to decrease in production... tapos magiging
poor yung quality ng elastin mo.. tapos diminished din yung subcutaneous layer... kaya nga yung elasticity at yung firmness ng skin
ay nababawasan....

Signs of aging- wrinkles,,, thin and transparent skin,, sagging of skin , dry skin .....



CLINICAL SIGNIFICANCE:

o ATOPIC DERMATITIS
We talk about skin barrier
Dapat daw talaga ang skin ay dikit dikit... kung may defect sa barrier.. yung mga allergens ay papasok sa loob at
mag cocause ng infection
o PSORIASIS
Presence of many free fatty acids

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