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Researchers Identify Progeria Gene

A study that may have broad implications for better understanding the aging process has resulted in the identification of the gene responsible for Hutchinson-Gilford progeria syndrome, the most dramatic form of premature aging. The study will be released online next week (April 21, 2003) in the journal, Nature.

"The implications of our work may extend far beyond progeria-to each and every human being," said Francis S. Collins, MD, PhD, director of the National Human Genome Research Institute (NHGRI) and leader of the research team.

Children born with progeria appear to have an aging rate that is five to 10 times what is normal, according to another of the researchers, W. Ted Brown, MD, PhD, co-author of the study and a leading clinical expert on progeria. They usually appear normal at birth, but within a year their growth rate slows and their appearance begins to change. Typically, they become bald with aged-looking skin. They often suffer from symptoms, such as cardiovascular disease, typically seen in elderly people. There are currently no diagnostic tests or treatments for the progressive disorder, which is believed to affect one in eight million newborns worldwide.

The researchers determined that the most common cause of progeria is a single-letter "misspelling" in a gene on chromosome 1 that codes for lamin A, a protein that is a key component of the membrane surrounding the cell's nucleus. In every instance in the study, the parents were found to be normal, indicating that the misspelling was a new, or "de novo", mutation in the child.

The research team included members from the National Human Genome Research Institute, the Progeria Research Foundation, the New York State Institute for Basic Research in Developmental Disabilities in Staten Island, NY, the University of Michigan in Ann Arbor and Brown University in Providence, RI. For additional information, go to the Progeria Research Foundation's Web site (www.progeriaresearch.org).