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Zack Hermann & Chase Huffaker

Where on Chromosome is Problem?

Marfan Syndrome is a mutation of the FBN1 Gene on the 15th Chromosome.

What Is the Problem?

Fibrillin-1 is directly related to the proper formation of the extra-cellular matrix, including the maintenance of elastic fibers. The extracellular matrix is critical for both the structural integrity of connective tissue, but also serves as a reservoir for growth factors. So, when a mutation occurs in the FBN-1 gene, growth and other skeletal factors can be effected dramatically.

What is the Prognosis?

Those effected by Marfan Syndrome often lead relatively normal lives. The life expectancy is similar to average human beings, and with adequate medical care, those diagnosed should lead happy lives. Michael Phelps is known to have been diagnosed with Marfan Syndrome and is a top Olympic athlete.

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