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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.
In addition to rippling muscle disease, CAV3 gene mutations can cause other caveolinopathies including CAV3 -related distal myopathy, limb-girdle muscular dystrophy, isolated hyperCKemia, and a heart disorder called hypertrophic cardiomyopathy.ippling muscle disease can be caused by mutations in the CAV3 gene. Muscle conditions caused by CAV3 gene mutations are called caveolinopathies.