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Marfan syndrome is a genetic disorder that affects the bodyâs connective tissue. Connective tissue holds all the bodyâs cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly.Connective tissue is made up of proteins.The protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1.This mutation results in an increase in a protein called transforming growth factor beta, or TGF-Î².he protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1.
McArdle syndrome is caused by a flaw in the gene that makes an enzyme called glycogen phosphorylase. As a result, the body cannot break down glycogen in the muscles. The disease is an autosomal recessive genetic disorder.