Topic > Marfan Syndrome - 1537

A disease that results from a change in an individual's DNA is classified as a genetic disease. The change can be very small, such as a single mutation in a particular gene, or complex, such as the addition or removal of a complete chromosome. An example of a genetic disorder that affects a particular gene is Marfan syndrome. Marfan syndrome is a hereditary disease that alters the connective tissue of the body (Frey R, Sims J, 2010). Individuals with this disorder are affected in multiple areas because connective tissue is present throughout the body. It is common for affected individuals to exhibit irregularities in the eyes, circulatory system, skin, lungs, and musculoskeletal system (Frey R, Lutwick L, 2009). Marfan syndrome is an autosomal dominant disorder resulting from mutations in the fibrillin-1 (FBN1) gene found on chromosome 15 (McKusick V, O'Neill M, 2013). Since 2008, at least 140 different mutations of this gene have been recorded (Frey R, Lutwick L, 2009). The FBN1 gene regulates the production of the protein fibrillin-1 which helps in the construction of fibrous filaments present in portions of the fibers in connective tissue (Frey R, Lutwick L, 2009). These filaments manage the release of growth factors or protein molecules that stimulate cell reproduction and growth (Frey R, Lutwick L, 2009). In healthy individuals, the filaments discharge growth factors at the right time, but those with Marfan syndrome face the dilemma of growth factors being discharged too early. The early release of growth factors causes fragile connective tissue and unusually long limbs in people with the disease. This genetic disorder is not specific to a certain age, ethnic group, or gender; so...... half of the sheet...... p. 941-947. Available at: Gale Virtual Reference Library; http://ezproxy.pc.maricopa.edu:2071/ps/retrieve.do? sgHitCountType=None&sort=RELEVANCE&inPS=true&prodId=GVRL&userGrou pName=mcc_phoe&tabID=T003&searchId=R2 &resultListType=RESULT_LIST&contentSegment=&searchType=AdvancedSearchF orm¤tPosition=1&contentSet=GALE%7CCX2468400295 &&docI d=GALE|CX2468400295&docType=GALEMcKusick V, O'Neill M. 2013. Fibrillin 1 OMIM, Online Mendelian inheritance in humans [Internet]. Baltimore (MD): Johns Hopkins University; [cited November 7, 2013]. Available from: http://www.omim.org/entry/134797?search=marfan%20syndrome&highlight=marfan%20syndrome%20syndromic#editHistory-shutterNational Institutes of Health [Internet]. 2010. Bethesda (MD): National Heart, Lung, and Blood Institute; [cited November 7, 2013] Available from: http://www.nhlbi.nih.gov/health/health- topics/topics/mar/