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Rare disease sheds light on normal human aging



Posted On: June 15, 2011

Washington, June 14 (ANI): A mutant protein involved in the rare premature aging condition known as progeria appears to play a role in normal aging too, according to researchers from the National Human Genome Research Institute.

The study provides insights about the interaction between a toxic protein called progerin and telomeres, which cap the ends of chromosomes like aglets, the plastic tips that bind the ends of shoelaces.

As the telomeres shorten, the cell produces more progerin.

Based on the study, it now appears that the same toxic protein that drives the premature aging disorder progeria plays a key role in normal cell aging, said NIH Director Francis S. Collins, M.D., Ph.D., a senior author of the current paper.

"We have learned something fundamental about the way your cells and mine are programmed to have a limited life span," he said. "It looks like it is not just a passive process."

"Connecting this rare disease phenomenon and normal aging is bearing fruit in an important way.

"This study highlights that valuable biological insights are gained by studying rare genetic disorders such as progeria," he added.

The study has been published online in the Journal of Clinical Investigation. (ANI)

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