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Adult stem cell changes underlie rare genetic disease associated with accelerated aging
Date:3/2/2008

Adult stem cells may provide an explanation for the cause of a Hutchinson-Gilford Progeria Syndrome (HGPS), a rare disease that causes premature aging in children, according to researchers at the National Cancer Institute (NCI), part of the National Institutes of Health (NIH). These findings, the first to indicate a biological basis for the clinical features of HGPS, also known as progeria, may also provide new insights into the biological mechanisms of normal aging. The results were published in the March, 2008, issue of Nature Cell Biology.

Studies like this of the biology of HGPS hold the potential to benefit children suffering this terrible illness and enlighten us as to the medical changes we all experience as we grow older. said NCI Director John E. Niederhuber, M.D. As our population ages, we have an increasing need for greater understanding of the biology of aging and age-related illness, such as cancer.

HGPS is an extremely rare hereditary genetic disease of children characterized by signs of premature aging. Children with HGPS generally experience the first symptoms by the age of one, and on average succumb around the age of 15, almost exclusively from premature, progressive heart disease. HGPS occurs in one out of four to eight million births; only 100 patients have been documented in the medical literature. Because its striking cardiovascular effects and other clinical features are so closely associated with the normal aging process, HGPS holds great interest for researchers studying age-related biological changes and disease.

The cause of HGPS, a mutated protein called progerin, was identified in 2003. However, the mechanism by which progerin causes the widespread clinical effects of HGPS has been unclear. To forge this link between molecular biology and medical outcome, Tom Misteli, Ph.D., head of the Cell Biology of Genomes Group at NCIs Center for Cancer Research (CCR), and CCR staff scientist Paola Scaffidi, Ph.D., e
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Contact: NCI Press Officers
ncipressofficers@mail.nih.gov
301-496-6641
NIH/National Cancer Institute
Source:Eurekalert

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