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Hutchinson Gilford Progeria Syndrome Essay

1047 words - 5 pages

Abbie Freeman
Mrs.Schroll
Honors Biology
26 November 2013
Progeria
The genetic disorder I chose is called Hutchinson Gilford Progeria Syndrome. It is more commonly known as just Progeria. I chose to write my paper on Progeria because it is a disease that many people know about, because its been on the news, and made into books and movies. Yet, I have never even heard of it till now.
Hutchinson Gilford Progeria Syndrome is a rare genetic disorder. It was discovered in 1886 by Hastings Gilford and Jonathan Hutchinson. It did not gain people’s attention though until 1981. This was when two kids,with Progeria, were discovered at Disneyland. These two kids were from South Africa and Texas. They were discovered by the media, who then did a report on them.
Progeria results in premature aging, and a life expectancy of 12 to 14 years. No signs are shown at birth, but they are usually seen between the ages of one and two. Some signs and symptoms are dwarfism, loss of body fat and hair, aged looking skin, hip dislocation, heart disease, a small jaw and face, and a pinched nose. Children with Progeria never reach sexual maturation and have thin high pitched voices. This disease does not affect their mental ability, in fact their intelligence is normal or above normal. By the age of ten these children are barely the height of a three year old. They only grow to the height of a five year old though, and have delayed tooth formation. The one major symptom and problem found in patients with Progeria is heart disease.
Heart disease, or atherosclerosis, is a major problem many of these children face. In fact, eighty percent of them die due to heart complications. Due to this major heart problem, they may have an enlarged heart, high blood pressure, or even chest pain due to poor blood flow to the heart. Also, they could experience strokes. On April 16, 2003 the gene for Progeria had been discovered.
The gene for progeria is the LMNA, or the Lamin A, gene. Found on chromosome 1, proteins lamin A and C are encoded at this gene. This mutation is found in 90% of the children with progeria.The Lamin A protein is what holds a nucleus together. Lamin A also determines the shape and size of the nucleus.One plausible cause of this point mutation is the activation of cryptic splice sites in exon of 11 of this gene.Another gene that has just recently been found to cause some forms of Progeria is the Ban F1 gene.The severeness of the disease is also determined by this. Hutchinson Gilford Progeria Syndrome is an autosomal dominant trait, but the likelihood of inheriting it is slim.
The chances of inheriting Progeria is between one in four million and one in eight million. There is no certain country where the chance of inheriting it is any higher.Since Progeria has been discovered, over 100 cases have been reported. No more than 250 children have lived at one time with Progeria. Henceforth, why it is considered a rare genetic disorder. This could be a good thing...

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