blog




  • Essay / Marfan Syndrome - 1537

    A disease resulting 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 deletion of an entire chromosome. Marfan syndrome is an example of a genetic disorder that affects a particular gene. Marfan syndrome is an inherited disease that alters the body's connective tissue (Frey R, Sims J, 2010). People with this disorder are affected in several areas because connective tissue is present throughout the body. It is common for affected individuals to have 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). At least 140 different mutations of this gene have been recorded since 2008 (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 certain parts of connective tissue fibers (Frey R, Lutwick L, 2009). These filaments manage the release of growth factors or protein molecules that promote 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 discharging growth factors too early. The early release of growth factors leads to brittle connective tissue and unusually long limbs in people with the disease. This genetic disease is not specific to a certain age, ethnic group or gender; so...... middle of paper ...... p. 941-947. Available from: 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=AdvancedSearchForm¤tPosition=1&contentSet=GALE%7CCX2468400295 &&docId =G ALE|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 at: 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 at: http://www.nhlbi.nih.gov/health/health-topics/topics/mar/