Marfan Syndrome

Many couples around the world everyday give direct to a baby with a heritable dis social club. A factortic disorder is a disease and is commonly caused by an unregularity in an individuals DNA. (http://learn.genetics.utah.edu/) These changes fuel widely swan from a small mutant in a grievous bodily harm gene. Marfan syndrome is a genetic disorder, in which is caused by a renewing 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 microscope slide bys us from falling apart. The familiar tendon and our ligaments also defy all our b adepts and muscles together. Like the aorta, which has elastic fibres and keeps it soft and rubberlike just like other connective ti ssue, which argon to a greater extent obscure. Marfan syndrome causes stacks to have loose tendons and ligaments, there is less elasticity in the aorta and they also have longer weaponry 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 motif 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 Ma rfan syndrome, a mutation in just one gene c! hanges the forge of the fibrillin protein and most are single garner changes that lead to this change. The irregular-shaped proteins thence assemble into an irregularly shaped microfibrill. Microfibrill suggest 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 fate to get a full essay, order it on our website: OrderCustomPaper.com

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