Progeria

Josh Betancourt

About Progeria

Progeria, or Hutchinson- Gilford Progeria Syndrome (HGPS), is a fatal genetic mutation, which occurs in an estimated 1 out of 8 million live births. The term Progeria originates from the Greek phrase, "prematurely old". Progeria was first described in 1866 by Dr. Jonathan Hutchinson and also a year later by Dr. Hastings Gilford. The average person with Progeria lives about to 14 years old.

What Causes Progeria?

Progeria is caused by a point mutation in the gene LMNA. LMNA produces the Lamin A protein, which provides structure to the nucleus while holding it together. Researchers have discovered that without the proper production of the protein, the nucleus becomes unstable. Consequently, the lack of stability in the cell leads to premature aging. Progeria is not normally passed down from the parents to their children (about 1 out of 4-8 million), but a couple who has already had a child with Progeria have a 2-3% chance that they will have another child with the disease.
The Triumphant Story of Sam Berns, Progeria and Math
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Healthy Cell Nucleus vs. Mutated Progeria Cell Nucleus

A healthy, normal cell nucleus is pictured on the left. On the right, there is a cell nucleus that has been mutated through Progeria. Notice the crumpled shape of the nucleus. With a massive surplus of Lamin A protein being produced, the cell nucleus starts to become contorted.

Effects of Progeria

Progeria patients begin to show signs around 18-24 months. They will stop growing, lose hair, have wrinkled skin, stiff joints, and have heart problems. People with Progeria have similar physical features, such as a beak nose and baldness. It is a fatal disease, with most patients not living past 14 years old. There is no cure at the moment, but there are scientists dedicated to beating the disease. Groups such as Progeria Research Foundation, or PRF, strive to improve the lives of families with a Progeria patient.
Introduction to Progeria Syndrome

Is there a cure?

As of currently, there is no cure for progeria. Unfortunately, most progeria patients die around 14 years old. There are scientists working on a cure, which is currently in clinical trials, with no telling how long it will take. In 2005 and 2006, scientists published studies that supported a potential drug to slow the effects of the disease. Farnesyltransferase Inhibitors, or FTIs, are capable of reversing some nuclear structure mishaps common in Progeria patients. Certain aspects of the disease have been improved in clinical testings, but the drug does not cure it.

Living with Progeria