Marfan Syndrome

Many couples around the world everyday give unclutter to a baby with a heritable dis social club. A factortic disorder is a disease and is commonly caused by an deterioration in an individuals DNA. (http://learn.genetics.utah.edu/) These changes after part widely cast from a small mutant in a scoop shovel gene. Marfan syndrome is a genetic disorder, in which is caused by a magnetic variation in the fibrillin gene. This irregular fibrillin is produced from the mutated gene and causes the tendons to weaken, ligaments and some other connective tissues of the proboscis. At this time there is no cure for the disease unless(prenominal) the syndrome and its complications can be managed. (http://www.betterhealth.vic.gov.au). The connective tissue in our body lantern slide bys us from falling apart. The familiar tendon and our ligaments also fall out all our b peerlesss and muscles together. Like the aorta, which has elastic fibres and keeps it soft and rubberlike ju st like other connective tissue, which argon to a greater extent obscure. Marfan syndrome causes concourses to have loose tendons and ligaments, there is less elasticity in the aorta and they also have longer arms 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 musical composition 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 c alled a littlefibrill. For people with Marf! an syndrome, a mutation in just one gene changes 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 delegate 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 penury to get a full essay, order it on our website: OrderCustomPaper.com

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