Topic > Progeria Symptoms and Progression - 623

Progeria, also known as Hutchinson-Gilford progeria syndrome, or “HGPS,” is a disease commonly identified as causing premature aging in children. Its name comes from the Greek word “geras”, which means “prematurely old” 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 the research was conducted by Dr. Hastings Gilford. While symptoms of HGPS occur within the first year of a child's life, Werner syndrome may not appear until adolescence and may continue until the child reaches their maximum lifespan of 40 or 50 years. Progeria occurs because there is a mutation in LMNA, a gene that produces a specific protein, the lamin A protein, which plays a critical role in holding a cell's nucleus together. This mutation leads to the production of progerin, a protein that makes the nucleus unstable. With this instability comes “the premature aging process and disease in Progeria.”(1)” The accumulation of the protein Progerin also affects telomeres, proteins that contribute to the aging process of cells and lead to telomere dysfunction. While HGPS is usually not hereditary, "Children with other types of 'progeroid' syndromes... may have conditions that run down families.(2)" HGPS is a form of sporadic autosmic dominance - "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 in 4 to 8 million newborns. "There are approximately 200-250 children living with Progeria worldwide at any given time, (4)" and was......half of the paper......undergoing bypass surgery of the coronary artery or dilation of cardiac arteries (angioplasty) to slow the progression of cardiovascular diseases.(8)” Works CitedProgeria 101/FAQ. (2012, September 24). Progeria Research Foundation. Retrieved January 12, 2014, from http://www.progeriaresearch.org/progeria_101.htmlShah, KN, MD, PhD, Crowe, MA, MD, & Butler, DF, MD. (2013, August 20). Hutchinson-Gilford progeria. Medscape. Retrieved January 12, 2014, from http://emedicine.medscape.com/article/1117344-overviewFitzgerald, K. (2012, September 26). First successful treatment for Progeria, a rare childhood disease. Medical news today. Retrieved January 12, 2014, from http://www.medicalnewstoday.com/articles/250725.php(2011, April 23). Progeria. Mayo Clinic. Retrieved January 12, 2014, from http://www.mayoclinic.org/diseases-conditions/progeria/basics/treatment/con-20029424