Marfans S yndrome Treatments

Virectomy
Marfan Syndrome Affects:

Poor Eye health
Surgical removal of the gel inside the eye. Improves
poor vision caused by Marfan syndrome.
Poor Blood circulation

Endovascular Aneurysm Repair Back pain
Surgical repair of aneurysms to prevent ruptures caused
by Marfan syndrome. Raised roof of mouth and crowded teeth

Vascular Grafting Bulging chest or sunken chest
Surgery to avoid a diseased blood cell using a vein or
tube. Long fingers and long legs/arms
This bypasses a blocked blood vessel.
Scoliosis
Heart Valve Repair
Surgical repair of a heart valve that is damaged. Heart Increased chance of aneurysms
valves are more likely to be damaged with Marfan
Syndrome Increased chance of Arthritis

Medications
Beta blocker and Antihypertensive drug
These drugs lower blood pressure and slow heart

By
Hayden, Nitin, Adam, Wilson
Stem Biology

 Statistics
1 in 5,000 people have Marfan syndrome
All races, sexes, and ethnic groups have the
same chance of getting Marfan syndrome
60% of people with Marfan syndrome have
a dislocated lens of the eye
25% of people with marfan's syndrome
don't have a parent with it
More than 90% of people with marfan
syndrome have the FBN1 mutation
Most common cause of death for people
with marfan syndrome is thoracic aortic
dissection
More than 200,000 people are affected by
marfan syndrome
Marfan syndrome is usually inherited from
an ancestor.
The Protein
Most of the mutations that cause Marfan syndrome
change a single amino acid in the fibrillin-1 protein.
Result in an abnormal fibrillin-1 protein that cannot
function properly
Marfan syndrome is advantageous for swimming.
Professional swimmers such as Michael Phelps
The amino acid that is changed is a calcium-binding have an advantage with their long arms, flexible,
epidermal growth factor-like domain of fibrillin-1. large feet, and large lung capacity. This shows that
FBN1 gene mutations that cause Marfan syndrome Marfans isn't that bad because it can possibly help
reduce the amount of fibrillin-1 produced by the cell, you get to the olympics!
or impair the transport of fibrillin-1 out of the cell People with Marfans are extremely flexible and
The reduction of fibrillin-1 can alter the
can stretch like no other human. Just take a look at
structure/folding of the protein and stability of Michael Phelps!
fibrillin-1,
The Process
The DNA is already incorrect because Marfans is
hereditary, and passed down, which is then copied wrong by
the mRNA. This occurs when the RNA polymerase splits the
DNA and replaces it with mRNA. This is in the nucleus and is
called translation. Then this causes the amino acid in the
cytoplasm to be incorrect because the codon and the https://www.google.com/search?q=marfan+syndrome&so
anticodon are coded wrong as well inside the ribosome. The urce=lnms&sa=X&ved=0ahUKEwjYubWouOTXAhUPx2M
Rough ER is responsible for turning RNA into protein. The KHS9RAbEQ_AUICSgA&biw=1536&bih=725&dpr=1&saf
machine that does this is called a ribosome. This process is
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https://www.marfan.org/about/marfan
called translation. This leads to the polypeptide chain to be https://www.nhlbi.nih.gov/health/health-topics/topics/mar/
chained wrong and fold wrong. The folding of the protein is
atrisk
crucial to the which causes the protein to end up changed. https://www.google.com/search?q=marfan+syndrome&so
The Golgi apparatus is to then process and package the urce=lnms&sa=X&ved=0ahUKEwjYubWouOTXAhUPx2M
protein that is synthesized by the cell. KHS9RAbEQ_AUICSgA&biw=1536&bih=725&dpr=1&saf
e=active&ssui=on