Marfan Syndrome
AP Biology Module 6 Lesson 2 Assignment 1
What is Marfan Syndrome?
Marfan Syndrome is a genetic connective tissue disorder.
The signs include long arms, legs, and fingers, tall and thin body types, curved spines, sinking or protruding chest, flexible joints, flat feet, aortic enlargement, eye problems, and sudden lung collapses.
When do complications set in?
MFS can be detected as early as birth or as late as adulthood. Marfan Syndrome is unique because it expresses variable expression, the effects are different for different people and the features very for time and level. This disease can be detected before birth. In order to diagnose before birth, the parental mutation must be identified first. Parental testing can be done like other genetic testing for deletion or mutation on the gene that contains MFS. Once this has been confirmed CVS (chorionic villus sampling) or aminocentesis can be preformed during periods of gestation.
Genetic Information
Chromosomal
The gene for Marfan syndrome is found on Chromosome 15.
It is more specifically on the long arm between base pairs 48, 408, 305 to 48, 645, 787.
Gene
The gene is called FBN1, or fibrillin 1 for MFS specifically.
A mutation causes impairment or reduced production of this protein.
This is a dominant gene inheritance pattern.
Environmental
There is not concluding evidence that MFS is associated with the environment or with other genes however, there is evidence that supports the hypothesis of environmental effect through medicinal treatment options.
Treatment
Treatment depends on how severe symptoms are in an individual. There is no cure, but ways to prevent complications and to slow present complications down. Certain medications, such as beta blockers, which slow the heart rate down, can be used to slow down the dilation of the aorta or surgery can be done to replace the dilated section. Surgery can be done to correct bone complications such as scoliosis or a caving chest cavity. Glasses or surgery can be used to correct some of the eye problems associated with the disease. Pain medications can treat nervous conditions such as dural ectasia.
Famous People with Marfan Syndrome!
Flo Hyman
A U.S.A Olympic Volleyball player. 6'5" inches tall, died of her un-diagnosed MFS during a match in Japan.
Abraham Lincoln
That's right, our 16th president suffered from MFS.
Tutankhamun
Even the 19 year old Pharaoh of Egypt suffered of MFS. Specialists have done genetic tests on his remains that actually suggest he really did suffer from the disease.