Think of being born healthy but growing old almost eight times as quickly. That’s the situation of children who suffer from the rare genetic disease known as Progeria, which enables them to age much more quickly than their peers from a very young age.
Hutchinson-Gilford Progeria Syndrome (HGPS) occurs in about 1 in 4-8 million births. It’s caused by a spontaneous mutation in the LMNA gene that results in the production of an abnormal protein called progerin, which damages cells and hastens the aging process.
Progeria children typically have stunted growth, baldness, wrinkled skin, stiff joints and unique facial characteristics. Although they have these physical changes, their intelligence is usually not affected.
Early cardiovascular disease is the greatest health risk. These are the top killers because of accelerated hardening of the arteries, which can cause heart attacks or strokes.
There is no cure at this time, but lonafarnib and other treatments can slow the disease progression and increase survival. The study of Progeria is also providing clues to the biology of normal aging, and may lead to future breakthroughs.
Did you know about this disease before?
MBH/PS