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Essay / Progeria: Genetic disorder of accelerated aging - 1866
Progeria is a fatal genetic disease characterized by the appearance of accelerated aging in children. It was first described in England in 1886 by Dr. Jonathan Hutchinson, and again in 1897 by Dr. Hastings Gilford. It is extremely rare and only affects one in four to eight million newborns each year. It is estimated that only about 200 to 250 children live with this disease. Additionally, it affects both men and women, as well as children of all races (“Progeria 101/FAQ”). Throughout this article, a brief but informative overview will be given about Progeria. Causes, symptoms, diagnosis, treatments, aging, pop culture and current research will also be covered. To begin with, Progeria is caused by a single mutation in the gene, lamin A (LMNA). Lamin A is responsible for making a protein necessary to hold the center of a cell together: the nucleus (Mayo Clinic staff). The abnormal lamin A protein is called progerin and makes the nucleus unstable. This cellular instability leads to a premature aging process. Additionally, it has been discovered that Progeria is not passed down in families unlike many other genetic mutations. The change in the gene is an event that occurs solely by chance and which researchers believe affects a single sperm or egg just before conception. However, parents who have already had a child with Progeria are more likely to have a second child with the disease. This is due to a condition called mosaicism in which one parent has the Progeria genetic mutation in a very small proportion of their cells, but they do not actually have Progeria ("Progeria101/FAQ"). Additionally, a child with Progeria will usually look normal at birth... middle of paper ...... what was used in the first trial was named the first ever treatment for Progeria (" Progeria 101/faq"). In conclusion, Hutchinson-Gilford Progeria Syndrome or Progeria is a rare and fatal disease that occurs in children. It is caused by a random mutation of the gene, lamin A, which eventually makes the nucleus unstable. Children with Progeria die at the average age of thirteen and can suffer multiple complications such as hardening of the arteries, joint stiffness, hip dislocations, heart attacks or strokes. Although death is inevitable, these children are extremely lovable and lead normal lives like any other child, despite their physical disabilities. Currently, the Progeria Research Foundation is attempting to find several treatments and hopefully a cure in order to rid the world and those who suffer from this devastating disease..