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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.
Examples of Diseases Caused by Insertion Mutations. Having nonfunctional proteins means that something in the body is not working properly. This can lead to disease. Let's look at a few examples of genetic diseases in humans that are the result of insertion mutations.nsertion mutations occur when extra genetic material is added to a DNA sequence. Learn about insertion mutations and some of the diseases they can cause in this lesson.