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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.
A mutation is a change in the base sequence of DNA that can affect the structure and function of proteins when they occur within a gene. Mutations can be spontaneously caused by copying errors during DNA replication or induced by exposure to external elements such as chemical mutagens, radiation or viruses. Cystic fibrosis is an example of a disease which can result from a nonsense mutation (this may not be the only cause though). 2  Frameshift mutations occur when the addition or removal of a base alters the reading frame of the gene.