Progeria

Biology Research Project

Why Did You Choose to Research This Disorder?

The disorder I choose is Progeria. I decided to search this disorder because I saw a documentary about it and I have seen many people with this disorder on social media which made me interested in it.

What Happens to The Body In This Disorder?

The child is born normal, but ages rapidly within the first two years of life. After a few months, the child will show symptoms of the disorder. Progeria affects the whole body, but the brain is not effected.

Symptoms

  • Large head
  • Short stature
  • Unable to grow within the first year
  • Small jaw
  • Loss of hair
  • Visible veins

Causes

The cause of progeria has been narrowed down to a gene mutation. This gene is called LMNA and it is responsible for creating a protein that helps hold the nucleus together. It is caused by a mutation on the lamin A. (LMNA) When there is a defect on the LMNA the cells become weak, which causes the rapid aging process.

How is this disorder inherited?

This disorder is not sex-linked, but it is rather inherited by a strange mutation that happens to a single egg or sperm before conception. It is located on the first chromosome and it effects the lamin A gene. The disorder is neither recessive nor dominate because it is random mutation and both parents are not carriers.

Treatment

A recent breakthrough has yielded hope for progeria patients. There has been a recent trial for a drug called Lonafarnib, which was originally made to treat cancer. It helps to improve some of the symptoms of the disorder such as weight gain, better hearing, and increased flexibility of blood vessels.

Diagnosis

The main way to test for progeria is to order for lamin A testing. However many symptoms of the disorder start to appear within the first year of life. Some such characteristics are body fat, growth, and cardiovascular problems.

Population Effects

Progeria effects between 1 in 4 to 8 million newborns. Only 200-250 people worldwide have this disorder at a any one time. It affects both sexes and all races equally. It doesn't have a set place where it is more common to inherit the disorder.

What I Discovered...

I learned a lot from this project. I learned about how progeria might effect the body, but the brain is untouched. I also learned how the doctors are working hard to find a cure and that they have found a treatment that helps reduce the effects of the disorder. I lastly learned about how rare the disorder really is because there are only 126 living patients worldwide.
Introduction to Progeria Syndrome
Little Girls With a Rapid-Aging Disease Get a Miracle...and Will Steal Your Heart!