Marfan Syndrome Research Paper

Topics: Marfan syndrome, Fibrillin, Aorta Pages: 6 (2505 words) Published: April 16, 2013
Jethro LeRoy Gibbs
Mr. Vance
24 December 2012
Strong Externally, Weak Internally

There was a high debate and many aweing theories arguing if Abraham Lincoln had a disorder called Marfan syndrome or not, which was eventually resolved when Lincoln actually inherited a disease called Multiple Endocrine Neoplasia Type 2B. Contributing to the dispute of Marfan syndrome in Abraham Lincoln, in 1964 a physician published his findings and observations in the Journal of the American Medical Association which diagnosed Abraham Lincoln that he had Marfan syndrome (Kugler). However, his conclusions were eventually proven wrong. But despite the false accusations, Marfan syndrome does exist in this world. Anyone who inherits Marfan syndrome faces the real risks and threats which contain devastating consequences. For example, a hard blow to the upper chest can result in immediate death because the connective tissues are alarmingly weak which can lead to serious heart complications and internal bleeding (Schnitzer 198). Abnormalities in the skeleton, heart, and eyes all contribute to the characterization of Marfan syndrome (Schnitzer 198). Any affected or damaged connective tissues can create or cause internal complications, especially concerning with the heart and the aorta (“Marfan Syndrome”), which is the most serious life threatening risk that can prove to be fatal (Jay). Marfan syndrome is an inherited disorder, characterized by several malfunctions including long bone overgrowth and several abnormalities of the skeleton, heart, and eye, which is caused by a defect and negative mutations in the fibrillin gene or fibrillin-1 that can weaken and devastate the connective tissues throughout the body guaranteeing further complications. In other words, Marfan syndrome weakens the connective tissues, augmenting the risk of damage in bone overgrowth, the skeleton, heart, and eye and at the same time affecting multiple crucial systems throughout the body. Marfan syndrome is a no laughing matter, according to four significant reasons: its expanded history, problematic causes, genetic description, and current research. First, Marfan syndrome was carefully observed in the late 1800 century. In 1896, a young patient was meticulously examined by Antoine Bernard – Jean Marfan, hence the name Marfan syndrome, who observed and first described the disorder (Keane). Marfan observed that the young patient had developed long, thin digits – such as the fingers, thumbs, and toes on the hands and feet – as well as the development of unusual long limbs (Keane). Little did he know, however, that this disorder was caused by mutations in the fibrillin gene that encodes a significant component, connective tissues (“Marfan Syndrome”). But the cause was eventually discovered and identified by researchers in 1991, with the help of a generous foundation, the March of Dimes (“Birth Defects”), which is the second reason why Marfan syndrome is a serious matter. Fibrillin is a protein found in different areas of the body such as the aorta, ligaments, bones, and the lungs (“Birth Defects”). Thus, fibrillin helps regulate a transforming growth factor called Beta that plays a crucial role in tissue growth and repair (“Birth Defects”) which helps stabilizes many significant areas throughout the body. Genetic description becomes the third reason. Marfan syndrome can be inherited by anyone (“Marfan Syndrome”), making it autosomal dominant (Jay). Autosomal dominant basically means that one parent can be diagnosed with the disorder (“Marfan Syndrome”) and have a 50-50 chance of passing it on to their children (Jay). The bottom line is that Marfan syndrome is a dominant genetic trait and that everyone can inherit it under certain circumstances (“Birth Defects”). Finally, being the fourth reason, current research is still underway, despite the fact that there is no cure yet. However, beginning in the year 2007, a clinical trial began comparing the effects of two...
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