What is Progeria?
Hutchinson-Gilford Progeria Syndrome “Progeria” or “HGPS” is a rare, fatal genetic condition characterized by an appearance of accelerated aging in children*. Its name is derived from Greek and means “prematurely old.” While there are different forms of Progeria*, the classic type is Hutchinson-Gilford Progeria Syndrome, which was named after the doctors who first described it in England: in 1886 by Dr. Jonathan Hutchinson, and in 1897 by Dr. Hastings Gilford.
* Other Progeroid syndromes include Werner’s syndrome, also known as “adult progeria” which does not have an onset until the late teen years, with a lifespan into the 40’s and 50’s.
How common is Progeria?
Progeria affects approximately 1 in 4 - 8 million newborns. There are an estimated 200-250 children living with Progeria worldwide at any one time. It affects both sexes equally and all races. Since The Progeria Research Foundation was created in 1999, we have discovered children with Progeria living in over 40 countries.
What are the features of Progeria?
Although they are usually born looking healthy, most children with Progeria begin to display many characteristics of Progeria within the first year of life. Progeria signs include growth failure, loss of body fat and hair, aged-looking skin and stiffness of joints. As children get older, they suffer from osteoporosis, generalized atherosclerosis, cardiovascular (heart) disease and stroke. The children have a remarkably similar appearance despite differing ethnic backgrounds. Children with Progeria die of atherosclerosis (heart attacks or strokes) at an average age of thirteen years.
What is the cause of Progeria?
HGPS is caused by a mutation in the gene called LMNA (pronounced “lamin-a”). TheLMNA gene produces the lamin A protein which is the structural scaffolding that holds the nucleus of a cell together. The abnormal lamin A protein that causes Progeria is calledprogerin. Progerin makes the nucleus unstable. That cellular instability leads to the process of premature aging and disease in Progeria.
please read more at the Progeria website
also, click this link if you’d like to get involved in their mission