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Identification of gene gives hope to children with progeria; May shed light on phenomenon of aging

[Boston, MA April 16, 2003] The Progeria Research Foundation (PRF), along with the National Institutes of Health (NIH), today announced the discovery of the gene that causes Hutchinson-Gilford Progeria Syndrome (HGPS or Progeria), a rare, fatal genetic condition characterized by an appearance of accelerated aging in children.

"Isolating the Progeria gene is a major achievement for the medical research community," said Francis Collins, MD, PhD, director, National Human Genome Research Institute and the senior author on the report, which appears today in Nature. "The discovery not only gives hope to children and families affected by Progeria, but also may shed light on the phenomenon of aging and cardiovascular disease."

Children with Progeria die from complications of cardiovascular disease or arteriosclerosis at an average age of 13. Researchers now believe finding the gene that causes Progeria may lead to answers surrounding the natural aging process and cardiovascular disease. Heart disease and stroke are the first and third leading causes of death in the United States, accounting for more than 40 percent of all deaths.

Within just one year of beginning the research, a group of leading scientists from the PRF Genetics Consortium were able to isolate the Progeria gene. Key aspects of the finding include the fact that Progeria is not inherited and that mutations to the gene LMNA (Lamin A) cause Progeria. The Lamin A protein is the structural scaffolding that holds the nucleus together and has been studied for years. Researchers now believe that the defective Lamin A protein makes the nucleus unstable. That cellular instability leads to the process of premature aging in Progeria.

In March 1999, Scott D. Berns, MD, MPH and Leslie Gordon, MD, PhD together with family, friends and colleagues formed the Progeria Research Foundation after their son Sam was diagnosed with Progeria at 21 months. They discovered a tremendous lack
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Contact: Liza Morris
lmorris@spectrumscience.com
202-355-6222
NIH/National Human Genome Research Institute
16-Apr-2003


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