Marfan Syndrome

Many couples around the world everyday give endure to a baby with a heritable dis social club. A factortic disorder is a disease and is commonly caused by an deadening in an individuals DNA. (http://learn.genetics.utah.edu/) These changes rout out widely rove from a small mutant in a pocket gene. Marfan syndrome is a genetic disorder, in which is caused by a mutant in the fibrillin gene. This irregular fibrillin is produced from the mutated gene and causes the tendons to weaken, ligaments and other(a) connective tissues of the proboscis. At this time there is no cure for the disease un little the syndrome and its complications can be managed. (http://www.betterhealth.vic.gov.au). The connective tissue in our body chute bys us from falling apart. The familiar tendon and our ligaments also get all our b wizards and muscles together. Like the aorta, which has elastic fibres and keeps it soft and rubberlike just like other connective tissue, which argon to a gre ater extent obscure. Marfan syndrome causes deals to have loose tendons and ligaments, there is less elasticity in the aorta and they also have longer ordnance and legs. All these characteristics are caused by a mutation in a maven gene on chromosome 15. This gene is named FBN1, for the protein it encodes, fibrillin-1.

The paper of the protein determines the precise order of the Gs, As, Ts and Cs. The gene produces lots of copies of the fibrillin protein, and these join together with other different components to rule a long, stringy structure called a littlefibrill. For people with Marfan syndrome, a mutation in just on e gene changes the forge of the fibrillin p! rotein and most are single letter changes that lead to this change. The irregular-shaped proteins thence assemble into an irregularly shaped microfibrill. Microfibrill interpret up in all kinds of connective tissues, but for people with Marfan syndrome, the micro fibrils in the aorta are most important in the wall of the aorta. The micro fibrils combine with elastic fibres to make it stretchy....If you inadequacy to get a full essay, order it on our website: OrderCustomPaper.com

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