Groundbreaking Study on Progeria-Aging Link

National Institutes of Health researchers have discovered a previously unknown link between Progeria and aging.  The findings provide insights about the relationship between the toxic, Progeria-causing protein known as progerin and telomeres, which protect the ends of DNA within cells until they wear away over time and the cells die.

The study* appears in the June 13, 2011 early online edition of the Journal of Clinical Investigation. It concludes that in normal aging, short or dysfunctional telomeres stimulate cells to produce progerin, which is associated with age-related cell damage.

Progerin-expressing cells from normal individuals show signs of senescence. DNA in the nucleus is stained blue. Telomeres are seen as red dots.

“For the first time, we know that telomere shortening and dysfunction influences the production of progerin,” says The Progeria Research Foundation Medical Director Leslie B. Gordon, MD, PhD. “Thus these two processes, both of which influence cellular aging, are actually linked.”

Prior research has shown that progerin is not only produced in children with Progeria, but that it is produced in smaller amounts in all of us, and progerin levels increase with aging. Independently, previous research on telomere shortening and dysfunction has been associated with normal aging. Since 2003, with the discovery of the Progeria gene mutation and the progerin protein that causes the disease, one of the key areas of research has focused on understanding whether and how Progeria and aging are linked.

“Connecting this rare disease phenomenon and normal aging is bearing fruit in an important way,” said NIH Director Francis S. Collins, MD, PhD, a senior author of the paper. “This study highlights that valuable biological insights are gained by studying rare genetic disorders such as Progeria. Our sense from the start was that Progeria had a lot to teach us about the normal aging process. “

Scientists have traditionally studied telomeres and progerin separately. While there is still much to learn about whether this new connection can lead to a cure for children with Progeria or potentially be applied to extending the human lifespan, this study provides further evidence that progerin, the toxic protein discovered through finding the gene mutation in Progeria, plays a role in the normal aging process.

*Progerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblasts, Cao et al, J Clin Invest doi:10.1172/JCI43578.

Click here for the full text of the NIH press release.