A team of researchers led by the National Human Genome Research Institute announced the discovery of a gene associated with a rare genetic disease that leads to premature aging. Hutchinson-Gilford progeria syndrome (HGPS), commonly called progeria, affects one in 8 million live births worldwide. The disorder has no diagnostic test or treatment. Children with the disease appear to age at a rate 5 to 10 times faster than normal.
Researchers found that the most common cause of progeria is a single base substitution in a gene located on chromosome 1. Now that the causative gene has been identified, a DNA-based test for progeria is available at five clinical laboratories [genetests.org]. This allows doctors to diagnose or rule out progeria in newborns much earlier than waiting for visible symptoms to appear.
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Capell, B.C., Erdos, M.R., Masigan, J.P., Fiordalisis, J.J., Varga, R., Conneely, K.N., Gordon, L.B., Der, C.J., Cox, A.D., Collins, F.S. Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome. Proc. Natl. Acad. Sci. USA, 102(36): 12879-12884. [PubMed]
Last Reviewed: March 5, 2015