"Hutchinson–Gilford Progeria Syndrome," a rare genetic condition

Progeria (also known as "Hutchinson–Gilford Progeria Syndrome", "Hutchinson–Gilford syndrome", and "Progeria syndrome") is an extremely rare genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. The word progeria comes from the Greek words "pro" (πρό), meaning "before", and "géras" (γῆρας), meaning "old age".

The disorder has very low incidences and occurs in an estimated 1 per 8 million live births. Those born with progeria typically live to their mid teens and early twenties. It is a genetic condition that occurs as a new mutation (de novo), and is rarely inherited. Although the term progeria applies strictly speaking to all diseases characterized by premature aging symptoms, and is often used as such, it is often applied specifically in reference to Hutchinson-Gilford Progeria Syndrome (HGPS).

The children with Progeria usually die of heart failure due to enlarged hearts and high blood pressure, or stroke. Childern can also experience chest pain called angina. In the first year of life the chidren have growth failure, resulting in a small body and a big head.

Causes:

Progeria is a result of a defect in the Lamin A gene. The product of this gene is Lamin A protein which important for the stablity of the nuclear membrane. Why this mutation causes rapid aging is unknown. These mutations arise sporadically (de novo) and are not passed through the parents because the childern die before reaching reproductive age.

History:

Hutchinson-Gilford Progeria Syndrome was named after the two Engish doctors who discovered it independently. It was described by Dr. Jonathan Hutchinson in 1886 and Dr. Hastings Gilford in 1897. However, the Progeria gene itself was not found until 2003.

Treatment

The Progeria Research Program has a Diagnostics Testing Program. This program enables people who research Progeria and patients to look at the genetic mutation in their genes. There are no complete cures but researchers are exploring the use of drugs like farnesyltransferase inhibitors (FTIs) which have been used to treat cancer but might work for Progeria patients.

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