What Is Marfan Syndrome?
2. Causes
Seventy-five percent of people with Marfan syndrome inherited it from one of their parents. The other 25% of cases result from a spontaneous mutation of one of the parents’ sperm or egg cells. The affected gene controls the body’s production of fibrillin-1, a crucial protein involved in the makeup of connective tissue.
Due to the defect, the body produces an excess of a different protein, transforming growth factor beta. This causes the connective tissue to be abnormally weak, which can cause problems in multiple areas of the body. MFS usually affects the eyes, heart, blood vessels, and musculoskeletal systems. However, not everyone exhibits the same symptoms to the same degree.
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