Marfan Syndrome Research Paper

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Marfans syndrome is a rare genetic disorder that affects the body’s connective tissue. This disorder specifically affects the heart, eyes, blood vessels, and bones. French pediatrician, Antoine Marfan, first described this abnormality as, a mutation in the gene which causes a defect in the production of fibrillin. Fibrillin is the main tool needed in connective tissue. The most life threating part of this disorder is the heart abnormalities because of the weakening of the root to the aorta. While some of these abnormalities can be listed as life-threatening, Marfan syndrome does not affect a person’s intelligence or their ability to learn. Marfan syndrome is an autosomal dominant disorder that occurs in one out of five-thousand live births. …show more content…
Signs can be easily noticeable if you have the following symptoms: “long arms, legs, and fingers, tall and thin body type, curved spine, chest sinks in or sticks out, flexible joints, flat feet, crowded teeth, and stretch marks on the skin that are not related to weight gain or loss” (marfan.org). Signs that are hard to detect would include heart problems, lung and eye problems, including but not limited to, nearsightedness, early glaucoma, and early cataracts. Visiting a specialized doctor is needed to be able to detect these features. They will be able to diagnose Marfan syndrome by doing a detailed medical and family history report and a complete physical examination of the bones, joints, and order an echocardiogram. Once they determine that you have these abnormalities, surgery is often …show more content…
Flo was playing volleyball in Matsue, which is approximately three-hundred and eight miles west of Tokyo and during the third game, she sat down on the bench and passed out. She was instantly pronounced dead. Doctors thought the death was caused by a heart attack, but her autopsy report indicated that she died of a ruptured aorta caused by Marfan syndrome. Why did physicians not catch this earlier in her career? She was known to be in excellent condition and she passed all of her physicals with flying colors, but since she did not display any problems at the time, they could not see the “dime-sized weak spot in her aorta.” That small spot was there since her birth and Matsue is where the artery had burst, exploding inside her chest. If Flo’s heart condition had been discovered in time, she might have been able to live a long, prosperous
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disorder is Marfan syndrome. A model organism used to study Marfan syndrome are mice. In humans, Marfan syndrome is caused by the lack of FBN1 protein production, due to a fibrillin-1-gene mutation. Mice are often used in studying Marfan syndrome since they are easily taken care of, have a high reproduction rate, and have a fully shotgun sequenced genome. Scientists are able to view genetic mutations in mice and see how mutations in the genome correlate to mutation phenotypes. In the research paper, A new…

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