MARFAN SYNDROME

MARFAN SYNDROME - Marfan Syndrome By Jessica Felder Jessica...

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Marfan Syndrome By: Jessica Felder
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Jessica Felder BIMS 320-200 Term Paper Marfan Syndrome In 1896, Marfan syndrome was first diagnosed and described by Dr. Antonin Marfan, reporting on the case of Gabrielle P. He described this 5-year old girl and her unusual   skeletal features, including long, slender fingers and limbs and other skeletal abnormalities that now are most recognized as the syndrome. Since 1896, the understanding and pathology of this disease has increased substantially and continues to increase everyday. Today, we know Marfan syndrome as an autosomal dominant genetic disorder affecting primarily connective tissue. It is caused by a genetic mutation in many genes. In general, it is often recognized by the appearance of long limbs, skinny and long fingers, a significant height, and an increased likelihood of cardiovascular problems, especially concerning those occurring in the heart valves and aorta. Marfan syndrome also has a significant effect on many other parts of the body such as eyes and lungs. In fact the most common symptom of Marfan syndrome is myopia, or nearsightedness. The genetic mutations causing this disease have been researched intensely and have been found to include many genes, primarily the FBN1 gene. These mutations are seen in a variety of phenotypical effects some of which were already mentioned, and these effects can often cause strong enough abnormalities to be fatal. Although, the effects of this disease can be very significant all diagnosed individuals must find a way to live. Some play volleyball with their increased height, and many others lead normal lives. Most even try to reproduce and lead the role of a mother. Overall, Marfan’s syndrome is a much 2
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researched genetic disease that has enormous effect on the individuals that are affected by it. In 1986, Sakai and his team isolated the fibrillin-1 protein. They studied its structure and importance to the structures of the body. In 1990, Hollister and his team found that fibrillin was related to Marfan syndrome. By using monoclonal antibodies, which specifically bind to fibrillin to serve as detection of the gene, they were able to report that abnormalities in microfibril systems were related to Marfan syndrome. Also in 1990, chromosome 15 was identified as the general location of the gene related to Marfan syndrome. In 1991, the fibrillin gene was both mapped to chromosome 15 and identified as the cause of Marfan syndrome. From 1991 and on, research of the mutation of the fibrillin gene and the relation to Marfan syndrome has been intensely researched to gain more understanding of the genetics and molecular pathogenesis of the disease. 1 The genotype ascribed to Marfan syndrome has been thoroughly studied, although a full understanding of the pathogenesis of Marfan syndrome still requires much more research and advances in knowledge. Marfan syndrome is genetically linked to Fibrillin, a protein that helps give connective tissue its elasticity and strength, due to its importance
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This note was uploaded on 04/02/2008 for the course ENTO 203 taught by Professor Bay during the Spring '08 term at Texas A&M.

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MARFAN SYNDROME - Marfan Syndrome By Jessica Felder Jessica...

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