Premature ageing gene discovery

Two teams of scientists have identified the genetic cause of progeria, a rare premature ageing condition. Their findings could lead to a new treatment for the disease, and could also provide insights into the normal ageing process. The researchers, based at the National Human Genome Research Institute, US, and the Timone Hospital in Marseille, France, published their findings in the journals Nature and Science.

Children affected by Hutchinson-Gilford progeria syndrome (HGPS) age around five to ten times faster than normal, and most die by the age of thirteen from either a stroke or a heart attack. The researchers found that the underlying genetic fault affects a protein called Lamin A. The alteration arises sporadically in affected children, rather than running in families, which made it difficult to pinpoint. 'It really was like looking for a needle in a haystack' said study author Leslie Gordon, who herself has a six-year old son affected by the condition. 'The Human Genome Project was absolutely essential to this finding' she continued. 'We literally could hop on the Web and find the genetic sequencing in the area of chromosome one where we thought the defect was found'.

The defective Lamin A protein affects the cell's ability to divide and multiply normally, thus preventing the regeneration of body tissues in progeria patients. Gordon is optimistic that pharmaceutical companies will be interested in developing drugs that target Lamin A, because of its possible involvement in normal ageing. But US ageing expert Lenny Guarente cautioned that children with progeria do not display all of the symptoms of normal ageing. They are not affected by dementia, for example, and so HGPS 'may not be a model for normal ageing'.