Marfan syndrome is an autosomal dominant disorder that has been linked to the FBN1 gene on chromosome 15. FBN1 encodes a protein called fibrillin, which is essential for the formation of elastic fibres found in connective tissue. Without the structural support provided by fibrillin, many tissues are weakened, which can have severe consequences, for example, ruptures in the walls of major arteries.
Beta blockers have been used to control some of the cardiovascular symptoms of Marfan syndrome; however, they are not effective against the skeletal and ocular problems, which can also be serious. A related disease has been found in mice, and it is hoped that the study of mouse fibrillin synthesis and secretion, and connective tissue formation, will further our understanding Marfan syndrome in humans.
People suffering from Marfan syndrome had a life expectancy of about 50 years. Today, the most common cause of death, aortic dissection (rupture of the aorta), can often be prevented. When the aorta becomes unsually wide, part of it is reinforced by an artificial structure made from titanium (please verify that!).
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