Hutchinson-Gilford progeria syndrome (HGPS), also called progeria and premature aging syndrome, is an extremely rare genetic disorder that causes premature aging shortly after birth. Although patients with HGPS have normal intelligence and motor control skills, they have distinct physical features that make them appear older than they really are. This is because a random genetic mutation causes cells in their bodies to die earlier than normal.
Symptoms, such as slowed growth, hair loss, and loose, aged-looking skin, typically develop when the child is six months to two years old. In addition, children with HGPS typically develop a condition called atherosclerosis, which occurs when the walls of the arteries become thick and hard.
There are several different forms of progeria, but the classic and most common type is HGPS. This disorder was named after two physicians from England, Dr. Jonathan Hutchinson, who first described it in 1886, and Dr. Hastings Gilford, who first described it in 1897.
There is currently no cure for HGPS, and a person’s prognosis is generally very poor. People with HGPS may live to be 7-30 years old. On average, most people die at age 13. About 90 percent of children with HGPS die from complications related to atherosclerosis.
It is only recently that this old age phenomenon has been deciphered. Masters in research fields spotted both the cause and the eventual cure for HGPS as well as making it a new theory of aging. Hutchinson-Gilford Progeria Syndrome is a result of “LMNA gene” mutation. LMNA gene produces lamin protein that is the structure that actually envelopes the nucleus in cells. The result of the mutation is that lamin is “farnesylated” and incapable to “evolve into a mature Lamin A”. Progerin is the name for the farnesylated lamin. The progerin tends to concentrate to the nuclear envelop of cells. “This interferences with consistency of the nuclear envelope can result in misshapen cell nuclei”.
In line with this research, it has been found that progerin is generated through aging. A Swedish research team has evaluated the inducement of progeria gene and found that as people age more and more “progerin RNA is produced”. It has been concluded that accumulation of progerin in typical cells causes similar effects to HGPS patients. This may lead to another path of drug development for normal anti-aging treatment and prevention.
