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Symptoms And Progression Of Progeria Essay

828 words - 4 pages

Progeria, also known as Hutchinson-Gilford Progeria Syndrome, or “HGPS,” is a disease that is commonly identified for premature aging in children. Its name is derived from the Greek word “geras,” meaning “prematurely old,” or “old age.” Several forms of Progeria are in existence, including HGPS and Werner’s Syndrome. The most severe type, HGPS, was first studied in England in 1886 by Dr. Jonathan Hutchinson, and again in 1897 when research was conducted by Dr. Hastings Gilford.
While symptoms of HGPS occur within the first year of a child’s life, Werner’s Syndrome might not appear until the teenage years and can continue until one reaches his or her maximum lifespan of 40 or 50 years of age. Progeria occurs because there is a mutation in LMNA, a gene that produces specific protein, lamin A protein, that plays an integral role in holding a cell’s nucleus together. This mutation leads to the production of progerin, a protein that causes the nucleus to be unstable. With this instability comes “the process of premature aging and disease in Progeria.(1)” The accumulation of the protein Progerin also affects telomeres, proteins that contribute to the aging process of cells and leads to telomere disfunction.
While HGPS is usually not hereditary, “Children with other types of ‘progeroid’ syndromes...may have diseases that are passed down in families.(2)” HGPS is a form of sporadic autosmal dominance- “sporadic because it is a new change in that family, and dominant because only one copy of the gene needs to be changed in order to have the syndrome.(3)” Progeria can be found in an approximate 1 in every 4-8 million newborns. “There are an estimated 200-250 children living with Progeria worldwide at any one time,(4)” and it has been discovered in children residing in more than 40 countries. While HGPS is present in both sexes, slightly more males are affected with a male-to-female ratio of 1:5:1 (5). Similar to the appearance of Progeria in both sexes, all races have been reported to be susceptible to the condition. However, caucasians account for 97% of all recorded cases(6).
In some cases, signs of Progeria can be determined at birth, but others cannot be identified until 6-12 months later. Many of the symptoms of Progeria occur throughout the first year of a child’s life. As he or she gets older, he or she develops into a person with distinct physical characteristics including: baldness, aged-looking, or wrinkled, skin, a pinched nose, and a small face and jaw in comparison to the size of his or her head....

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