Progeria

Biology Research Paper

Hutchinson-Gilford syndrome, also called Progeria. Progeria is highly rare and tragic disorder. I decided to research this disorder because I have heard about it before, but have never really understood what causes it.
In greek the word Progeria means "prematurely old."Progeria is a genetic disorder that causes kids to age quickly. Children usually appear normal at birth and starts in the first two years. Since 1999 The Progeria Research Foundation have found children in over 40 countries diagnosed with Progeria. This disorder affects 1 in 4-8 million babies.

Symptoms

Babies with Progeria can have these symptoms:

  • do not grow or gain weight normally
  • have a bigger head
  • Large eyes
  • small lower jaw
  • thin, "beaked" tip nose
  • Very visible veins
  • slow/ abnormal teeth growth
  • high-pitched voice
  • Loss of body fat and muscle
  • Hair loss
  • Heart disease
  • bone loss
  • heart attacks or strokes

Causes

Progeria is caused by a gene mutation called LMNA. LMNA gene makes a protein that holds the nucleus of a cell together. The lamin A protein that causes Progeria is called, progerin, which causes the nucleus to become unstable and causes premature aging.
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Progeria occurs by a mutation which means it can not be inherited from your parents. It is caused by a change in cell division and it is found on chromosome 1.
Introduction to Progeria Syndrome

Treatment

On September 24, 2012 the results of the first clinical drug trial for children with Progeria came back successful. Lonafarnib, originally made to treat cancer, helped these children by: gaining additional weight, better hearing, improved bone structure, and increase flexibility of blood vessels.

Diagnoses

They used to only be able to diagnose the syndrome by obvious symptoms such as: changes in skin and weight gaining problems. There is now a genetic test to for HGPS. This helps for less misdiagnoses and early medical help. They way they test is for a one letter change in the DNA so they use genetic decoding to find that changed letter.

Population Effects

Progeria affects about 1 in 4 - 8 million babies. It affects both males and females equally and occurs in all races.
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What I discovered...

I learned a lot about this disorder through research. I learned what happens in the body to cause kids to have progeria and what symptoms they have from it. I also learned that most of them die at the age of 13 or 14 from strokes and heart attacks.
Living With Rapid-Aging Disease Progeria
Meet Zoey Penny
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