Elias O

Where on Chromosome is Problem?

Indiscriminately affecting approximately 1 in 4-8 million newborns, Progeria (also known as "Hutchinson-Gilford Progeria Syndrome" or just "Progeria Syndrome") is caused by mutations on the LMNA (lamin A protein) gene on chromosome 1. LMNA is the structural scaffolding which holds the nucleus of a cell together, the condition is caused by abnormal LMNA genes which are called progerin which causes nuclear instability, leading to the effects of the disease. We all make progerin to some extent but those affected with Progeria create much more and the buildup of this abnormal protein over a lifetime is believed to cause the aspects of aging such as atherosclerosis (heart attacks or strokes). Progerin is also linked to telomere dysfuncion, and these telomeres are proteins that play a major role in cell aging. Progeria is not usually passed down in families as it is a "sporadic autosomal dominant" mutation ("sporadic" because it begins a new change in that family and "dominant" as only one copy of the gene needs to be changed in order to have the syndrome).

What Is the Problem?

Children born with Progeria experience accelerated aging leading to detrimental effects, always fatal. Children with the disease are born healthy-looking, but will begin to feel the effects of Progeria within their first year of life. Symptoms of Progeria include growth failure, narrow, shrunken, or wrinkled face, loss of body fat and hair, dry, thin, scaly skin, short stature, large head for size of face (Macrocephaly), open soft spot, small jaw (Micrognathia), limited range of motion, delayed or absent tooth formation, and stiffness of joints. When these children grow older they suffer from osteoporosis, generalized atherosclerosis, cardiovascular disease and stroke.

What is the Prognosis?

Children with Progeria die almost exclusively of atherosclerosis at an average of thirteen years.

Cite Your Sources

Progeria Research Foundation
U.S. National Library of Medicine - Progeria
Image from Wikipedia