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The rare aging disease, Proger ...

Posted Sep 08 2010 6:54am
The rare aging disease, Progeria, linked to aging in the general population

Study results demonstrate progerin increases in blood vessels as we age

BOSTON, MA , 08 sept 2010– Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is a rare, fatal genetic disease characterized by an appearance of accelerated aging in children. All children with Progeria die of the same heart disease that affects millions of normal aging adults (atherosclerosis), but instead of occurring at 60 or 70 years of age, these children may suffer heart attacks and strokes even before age 10, and the average age of death is 13 years. Finding treatments and a cure for Progeria may provide clues to preventing or treating heart disease in the general population.

On August 26, 2010, Arteriosclerosis, Thrombosis, and Vascular Biology electronically published, ahead of print, the results of a study comparing Progeria, and typical cardiovascular aging, entitled "Cardiovascular Pathology in Hutchinson-Gilford Progeria: Correlation With the Vascular Pathology of Aging". The study found that progerin, the abnormal protein that causes Progeria, is also present in the vasculature of the general population and increases with age.

Researchers examined cardiovascular autopsies and progerin distribution in two patients with Progeria along with a group of 29 individuals without Progeria. Between the ages of one month and 97 years, researchers found that progerin in individuals without Progeria increased an average of 3.3 percent per year in the coronary arteries.

"We found similarities between many aspects of cardiovascular disease in both Progeria and the atherosclerosis that affects millions of people throughout the world" said Dr. Leslie Gordon, senior author of the study, and Medical Director of The Progeria Research Foundation. "We also found progerin in cardiac blood vessels of people without Progeria. The fact that progerin is present at all tells us that there may be a tie between the heart disease of Progeria and the heart disease that affects us all as we age. "

This study supports the possibility that progerin is a contributor to the risk of atherosclerosis in the general population, and merits examination as a potential new element influencing vascular health with aging.

"By examining one of the rarest diseases in the world, we are gaining crucial insight into a disease that affects millions of people worldwide. Ongoing research has the potential to have a significant impact on our understanding of heart disease and aging," said Dr. Gordon


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The Progeria Research Foundation (PRF) was established in 1999 to find the cause, treatment and cure for Progeria – a rapid aging disease that causes children to die from heart disease or stroke at an average age of 13. In the past 10 years, research conducted in partnership with PRF has identified the gene that causes Progeria and possible treatments. PRF is now funding first-ever Progeria clinical drug trials, currently underway at Children's Hospital Boston. To learn more about Progeria and what you can do to help, please visit progeriaresearch.org
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