One of the biggest questions hanging over research into progeria — which causes rapid aging and causes children to die of heart attacks or strokes in their teens — is whether the disease offers clues about the normal aging process. A paper out today adds to a growing body of evidence that it does. First some quick background: progeria is characterized by a build-up of progerin — a mutant form of a protein called Lamin A, which is critical to organizing the genome inside the body’s cells. As the WSJ has reported , for a long time researchers weren’t sure whether people who don’t have progeria make progerin. Published research in the past few years has demonstrated that progerin is, in fact, present in the skin cells and coronary arteries of people without the disease. But there has been great uncertainty about what may set off the production and accumulation of the protein. In the study, published online today by the Journal of Clinical Investigation , NIH researchers found that activation of progerin in the cells of people without the disease is associated with the normal process of aging. How? We already know that telomeres, the ends of chromosomes, wear away over time. And the paper suggests that short or damaged telomeres activate the production of progerin. Francis Collins, head of the

NIH and an author of today’s study, says the paper’s findings offer a new insight into aging. Some researchers thought of aging as a “passive running-down,” he tells the Health Blog. Instead, it appears that “it is an active program to take cells near the end of the life span and make sure they don’t teeter on the brink very long but actually head over the cliff.” Progerin, says Collins, is a key factor in “sending them over the cliff.” Scientists still don’t know how the telomeres signal progerin production, whether there might be a way to interfere with the process and if so, whether interfering might have its own bad effects. (Cells that don’t die can cause other problems, such as cancer .) But Leslie Gordon, medical director of the nonprofit Progeria Research Foundation, says today’s paper connects progeria and the normal aging process more tightly. The role of telomeres in aging is a huge and long-standing area of scientific interest. The study of progerin was once thought to be on a separate scientific track, confined mainly to a tiny number of children with a rare and fatal disease. “To be able to directly link the two,” says Gordon, “is huge.” Image: iStockphoto

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Rare Disease of Progeria Offers Clues to Normal Aging