Marfan+Syndrome

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 * Marfan Syndrome**

**What is Marfan Syndrome** ? You may not have heard of the term “Marfan Syndrome”, also known as MFS. This rare disorder was discovered in 1896, by a French doctor named Antoine Marfan. It is an inherited connective tissue disorder that can affect many different parts of the body. Connective tissue is made up of proteins that act like glue to support your bones, blood vessels, nervous system, skin and internal organs. Individuals suffering from Marfan Syndrome have an abnormal biochemical makeup. The connective tissue in their bodies is not as stiff as it should be which affects the growth and development of their body.

Genetics of the Marfan Syndrome
The disorder is caused by mutations or changes in one of a pair of genes called fibrillin genes. These are located on one of the 23 pairs of human chromosomes. The FBN1 gene is a large protein that can cause more than 300 mutations. These mutations can lead to the rare condition known as Marfan Syndrome. The fibrillin 1 or FBN1 gene produces a protein called fibrillin. This protein attaches itself to the other proteins and molecules in your body. It also controls the growth and repair of your tissues and internal organs. Fibrillin is necessary for the formation of elastic fibers in your connective tissue. A mutation in the FBN1 gene reduces the amount or quality of fibrillin, Without the proper support, the connective tissues can become weak or tear. The faulty fibrillin weakens the connective tissue and ligaments connecting the heart, eyes, bones and lungs throughout your body.
 * FBN1 Gene**

**Marfan Syndrome Information ** [|National Marfan Foundation]

[|Marfan Syndrome.info]