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Essay / Progeria Symptoms and Progression - 623
Progeria, also known as Hutchinson-Gilford Progeria Syndrome, or “HGPS,” is a disease commonly identified as premature aging in children. Its name is derived from the Greek word "geras", meaning "premature old age" or "old age". There are several forms of Progeria, including HGPS and Werner syndrome. The most severe type, HGPS, was first studied in England in 1886 by Dr. Jonathan Hutchinson, and again in 1897 when research was carried out by Dr. Hastings Gilford. Although symptoms of HGPS appear during the first year of a child's life, Werner syndrome may not appear until adolescence and may persist until one reaches full age. maximum life of 40 or 50 years. Progeria occurs because there is a mutation in LMNA, a gene that produces a specific protein, lamin A protein, which plays an essential role in holding a cell's nucleus together. This mutation leads to the production of progerin, a protein that makes the nucleus unstable. This instability is accompanied by “the process of premature aging and disease in Progeria. (1)”. Accumulation of the Progerin protein also affects telomeres, proteins that contribute to the aging process of cells and lead to telomere dysfunction. While HGPS is generally not hereditary, "Children with other types of 'progeroid' syndromes...may have diseases passed down within families.(2)" HGPS is a form of dominance sporadic autosmic - "sporadic because it is a new change in that family, and dominant because only one copy of the gene needs to be changed to have the syndrome.(3)" Progeria can be found in about 1 new -born in 4 to 8 million. "An estimated 200 to 250 children are living with Progeria worldwide at any one time(4)", and this has been middle of paper......go to coronary artery bypass grafting or heart dilation coronary artery. heart arteries (angioplasty) to slow the progression of cardiovascular disease.(8)”Works CitedProgeria 101/FAQ. (September 24, 2012). Progeria Research Foundation. Accessed January 12, 2014 from http://www.progeriaresearch.org/progeria_101.htmlShah, KN, MD, PhD, Crowe, MA, MD and Butler, DF, MD. (August 20, 2013). Progeria Hutchinson-Gilford. Medical landscape. Retrieved January 12, 2014, from http://emedicine.medscape.com/article/1117344-overviewFitzgerald, K. (September 26, 2012). First successful treatment against Progeria, a rare childhood disease. Medical News Today. Retrieved January 12, 2014 from http://www.medicalnewstoday.com/articles/250725.php (April 23, 2011). Progeria. Mayo Clinic. Accessed January 12, 2014 from http://www.mayoclinic.org/diseases-conditions/progeria/basics/treatment/con-20029424