X-Message-Number: 21609 Date: Thu, 17 Apr 2003 16:15:21 +1000 From: Subject: Premature-ageing gene found From Nature magazine: Premature-ageing gene found Single letter change in DNA hints at basic biology of getting old. 17 April 2003 HELEN R. PILCHER Two studies have found that a single letter change in the genetic code is responsible for a premature ageing condition. The finding could hold hints on the processes that underpin ageing. Since it was first described in 1886, more than 100 cases of Hutchinson-Gilford progeria syndrome (HGPS) have been reported worldwide. Sufferers seem to age up to ten times faster than normal. Children develop pinched and wrinkled skin, lose their hair and grow slowly. They are prone to ailments more common in the elderly, such as stiff joints and hip dislocations. Most die by the age of 13, usually from a heart attack or stroke. Researchers hope that the discovery of the syndrome's genetic basis will aid the development of tests and therapies for the condition. It is "the first piece in solving the tragic puzzle of progeria", says geneticist Francis Collins, director of the National Human Genome Research Institute in Bethesda, Maryland, who led one of the studies(1). Children with HGPS commonly suffer severe muscle pain. Diagnosing the disorder correctly means that doctors can prescribe the most appropriate drugs, explains Nicolas Levy of the Timone Hospital in Marseille, France, co-author of the second study (2). "Identifying the gene responsible for the disease is the first step towards possible therapies," says Levy, although their development is likely to take time. Between them, the two groups studied DNA from 21 patients. They spotted an abnormality in the LMNA gene, which helps to make the membrane around a cell's nucleus. The nuclei of HGPS patients' cells are often misshapen. The genes involved in premature ageing may shed light on how we age normally. Understanding their effects may help researchers to clarify the "cellular mechanisms" that underpin ageing, says molecular gerontologist Thomas von Zglinicki of the University of Newcastle-upon-Tyne, UK. But children with progeria do not display all of the symptoms of normal ageing - they do not become demented, for example. So HGPS "may not be a model for normal ageing," warns ageing researcher Lenny Guarente of the Massachusetts Institute of Technology in Cambridge. References (1) Collins, F.S. et al. Recurrent de novo point mutations in Lamin A cause Hutchinson-Gilford Progeria Syndrome. Nature, 422, published online, doi:10.1038/ (2003). (2) De Sandre-Giovannoli, A., Cau, P. , Navarro, C., Boccaccio, I. & L vy, N. Lamin A Truncation in Hutchinson-Gilford Progeria. Science, published online, doi:10.1126/science.1084125 (2003). Nature News Service / Macmillan Magazines Ltd 2003 Rate This Message: http://www.cryonet.org/cgi-bin/rate.cgi?msg=21609