Marfan+Syndrome


 * __Marfan Syndrome__**


 * Cause:** Marfan Syndrome is a genetic disorder caused by a mutation of a gene in Chromosome 15. The gene is called FBN1, because the protein that it produces is fibrillin-1. Fibrillin combines to make microfibrils. Most Marfan Syndrome is caused by a change in an amino acid that makes up the protein of the gene. The amino acids each have a different 3-letter code, and a single letter change, causing an amino acid change, often leads to mutation of the gene. The change in the amino acid changes the shape of the fibrillin proteins that the the gene produces. The irregularly shaped fibrillin forms irregularly shaped microfibrils. Microfibrils show up in the connective tissues. The misshapen fillibrin weakens tendons, ligaments, and other connective tissues.

//You could have one symptom, or you could have all symptoms. The severity of the symptoms vary from mild to very severe. Connective tissue is a term used for everything in your body that holds it together. Examples are tendons and ligaments, which hold bones and muscles toether. Bones are connective tissue, as well as the aorta.//
 * Symptoms:**
 * enlarged Aorta
 * curved spine/Scoliosis
 * dislocated eye lense, very nearsighted
 * weak connective tissue in the heart, skeletal system, eyes and other organs
 * longer arms and legs, long fingers
 * can't straighten arms
 * loose tendons and ligaments
 * indented breatbone
 * specific type of flat-footedness


 * Diagnosis:** Because many people without the Marfan Syndrome have one of the above symptoms, doctors look for the presence of multiple symptoms.


 * Effect:**The mutation weakens tendons, ligaments and other connective tissues in the body.


 * Incidence:** About 1 in every 5000 people suffer from Marfan Syndrome. Three out of four people with Marfan Syndrome inherit disorder from a parent who had disorder. Mutation is dominant so only one mutation is needed to have the syndrome.


 * Inheritance:** Three out of four people with Marfan Syndrome inherit it from a parent. The child only needs to inherit one mutated gene to get the disease. The child may show different symptoms of the disease than their parents. In people who's parents don't have Marfan, they contract the disease when one of their fibrillin genes randomly mutates before birth. When one parent has a mutated gene, their child has a 50% chance of contracting Marfan Syndrome. An unborn child has .01% of randomly contracting Marfan Syndrome.


 * Testing/Screening:** No DNA based tests to diagnose due to the fact that every family has their own unique mutation in the fibrillin gene. Some physicians that know the disease well diagnose it based on the co-existence of several features.


 * Treatment**: Drugs can reduce stress experienced by Aorta. If Aorta is severely enlarged it may need to be surgically removed and replaced. Artificial lenses can be used to treat a dislocated eye lense. Braces can be used to straighten out spine. Surgery can be performed to straigten out the spine or flatten the breastbone. Some people have heart surgery.


 * Interesting Info:** Some people think Abraham Lincoln may have had Marfan Syndrome. A distant relative had it, and he had a very lanky body.

Sources: http://www.ygyh.org/