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.
Eriksson, M., Brown, W.T., Gordon, L.B., Glynn, M.W., Singer, J., Scott, L., Erdos, M.R., Robbins, C.M., Moses, T.Y., Berglund, P., Dutra, A., Pak, E., Durkin, S., Boehnke, M., Glover, T.W., Collins, F.S. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature, 423: 293-298. 2003. [PubMed]
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]
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Last Reviewed: August 15, 2013