What Causes Marfan Syndrome?
Marfan syndrome is caused by a defect in the gene
that controls the structure of a protein called fibrillin 1. Fibrillin 1 is an
important part of connective tissue. If you have the defective gene, your body
produces fibrillin 1 that does not function as it should. As a result, your
connective tissue is not as strong as it should be, and it weakens over time.
Fibrillin 1 also plays a role in the growth and development of many of the
organs of the body. Defective fibrillin 1 contributes to the tall, thin body
type seen in people with Marfan syndrome, as well as other Marfan signs and
symptoms.
About 3 out of 4 people with Marfan syndrome inherit
the defective gene from a parent. In about 1 out of every 4 people with Marfan
syndrome, the gene abnormality occurs due to a chance (spontaneous) mutation of
the gene. |