Marfan Syndrome

The Marfan syndrome is a heritable disorder of the fibros connective tissue which involves the musculoskeletal, ocular, and cardiovascular systems; this disorder appears to be due to a mutation found in the fibrillin-1 gene on chromosome 15. Marfan syndrome is found in one of every 20,000 births; it affects around one in 5000 worldwide. If neither parents of a Marfan child are affected there is only a risk of 1 in 20,000 for having another child with Marfan. In cases where no parent is affected, a spontaneous mutation in the gene that causes Marfan, found in the sperm or egg of a parent, is thought to be the cause of the condition. Onset takes place at conception. There a

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cterization of the Aortic Architecture Nearly every mutation in the FBN1 gene that causes Marfan syndrome has been different, making the use of mutational analysis for presymptomatic diagnosis difficult. Thus molecular genetic analysis cannot be used to predict complication severity (Milewicz, 1995). Milewicz reported on ultrasonic characterization of the aortic architecture found in Marfan syndrome. The media of the aortic wall includes elastic fibers and collagen which form stress-distributing and stress-bearing systems, and smooth muscle cells which are active contractile components. The circumferential smooth muscle cell layers alternate with interposing elastic laminae in an ordered manner. The elastic fibers have an amorphous core of elastin and a peripheral mantle of microfibrils. Elastin is the predominant protein found in the elastic fiber core. Microfibrils in the elastic fiber can only be seen by electron microscopy; they are filled with fibrillin proteins. Fibrillin-containing microfibrils are critical for proper elastic fiber system development. Mutations in the FBN1 gene are multiple in Marfin patients and most alter the coding of only one of the 2871 amino acids in the fibrillin protein. Ultimately the
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Approximate Word count = 8202
Approximate Pages = 33 (250 words per page)

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