Progeria Essay

932 words - 4 pages

Progeria is a rare, fatal, genetic condition that comes from the Greek word progeros meaning prematurely old. In the greek language, the word ‘pro’ means before and the word ‘geras’ means old age. Another name for progeria is Hutchinson-Gilford Progeria Syndrome. Hutchinson-Gilford Progeria Syndrome (HGPS) was first described in 1886 by Dr. Jonathan Hutchinson and also in 1897 by Dr. Hastings Gilford in 1897 – both in England.
Hutchinson- Gilford Progeria Syndrome is reported about 1 in 8 million newborns (Parker 16). Hutchinson-Gilford Progeria Syndrome equally affects both sexes and races of children and gives them an appearance of rapid aging (Nordqvist 1). The symptoms of this disease show around eighteen to twenty-four months of age. Some of the symptoms are growth failure during the first year of birth, narrow shrunken or wrinkled face, baldness, loss of eyebrows or eyelashes, macrocephaly, open soft spot, small jaw, dry scaly skin, limited range of motion, and delayed or absent teeth (Brown).
To help with the diagnoses of this disease, an overall look of the symptoms are used and radiography is also used. Radiography is used to determine bone density and body composition, such as body fat and muscle. For example, when taking x-rays of the skull, the craniofacial bones are disproportioned and when taking x-rays of the hands, the terminal phalanges are radiolucent (Sarkar,Shinton 312). Blood tests are done to analyze cardiovascular risk factors and blood counts, urine tests are done for sugar and proteins, photographs to study growth problems, EKG and heart ultrasound to study the heart and blood vessels, lung function tests to measure energy consumption and lung capacity, hearing tests, skin biopsy to examine cellular change, eye examination to evaluate eye sight, eye pressure and structure, dental examination including x-rays, and MRI's to screen for neurological changes and stroke symptoms. Also, diagnostic lab testing is done from blood and skin samples of progeria children to take a close look at the DNA.
Now that scientists know that progeria is usually caused by a change of one letter in the billions of letters in DNA, that change can be seen using a genetic testing. During the genetic sequencing, the gene is “decoded” and its sequence is determined letter by letter (www.progeriaresearch.org). With only sixty-eight people reported in the world with this disease, progeria is caused by a change in the DNA in the gene called LMNA. The LMNA gene produces a protein called Lamin A, which structure holds the nucleus of a cell together. Researchers came to the belief that with the defective Lamin A protein, it makes the nucleus unstable leading to the rapid aging.
As of 2012, Progeria Research Foundation provided over 3 million dollars for progeria related research projects performed in many states and in 6 other countries. As of right now, there are not any treatments to help cure progeria but there are some medications to help some...

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