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Hutchinson Gilford Progeria Research Paper

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Progeria is a fatal genetic disorder that causes rapid aging. Progeria comes from the Greek word “Progeros” which means prematurely old (5). This syndrome affects males and females as well as all races in a uniform manner. The first type is known as Hutchinson-Gilford progeria syndrome, but can also be called Hutchinson-Gilford syndrome or HGPS. Hutchinson-Gilford progeria is the most typical type even though it’s rare. HGPS was first discovered in England by John Hutchinson in 1886, however he only described the genetic disorder. It wasn’t till later in 1897 that Hasting Gilford officially named the disorder Progeria. In 2003 the National Human Genome Research Institute partnered with Michigan University, the Progeria Research Foundation, and the New York State Institute for Basic Research in Developmental Disabilities and discovered the gene that leads to the …show more content…
This happens in the sperm or egg before conception. This gene codes for two proteins known as Lamin A and Lamin C. These proteins stabilize the inner layer of the nucleus within the cell, however, through testing the mutation of the LMNA gene produces an unusual Lamin A protein known as progerin (1). This causes damage to the cardiovascular and musculoskeletal tissues due to build-up of progerin. When the cardiac muscle tissue contracts the heart pumps the blood, however, when progerin builds up in the arteries this causes thick vessel walls which restricts blood flow leading to a stroke, heart attack, or death in children with progeria. Some of the musculoskeletal disorders are thin limbs due to fat loss, hip dislocations, and joint contractures. Bone tissue is a dense connective tissue that is used to make up the bones. The tissue itself contains much calcium and phosphorus salts. Having this syndrome affects the bones causing them to deteriorate which leads to the individual be very

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...Hutchinson- Gilford Progeria syndrome(HGPS) which is more commonly known as Progeria is an extremely rare genetic disorder in which the child ages rapidly. Progeria must be diagnosed and is a lifelong illness. Progeria was first detected by Dr. Jonathan Hutchinson in 1886, then by Dr. Hastings Gilford in 1897. This is evidently where the disorder got its name. Progeria is caused by a genetic mutation that occurs before birth. The mutation occurs in the LMNA gene. The LMNA gene is responsible for creating a protein that helps maintain the structure of the nucleus in a cell. The LMNA gene holds the nucleus together, and without strength in the nucleus, the cells can become weak and cause aging. HGPS is a sporadic autosomal dominant mutation....

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