Progeria: New Hope on the Horizon

(c) 2011, Written by Will Blesch

What if, for every year you were alive, you aged ten years? That’s what happens to kids who have the extremely rare genetic disease, Progeria.

Only one child in eight million…that’s 1 in 8,000,000 children gets this disease.

But, for those who do…their life expectancy is horrifyingly low.

Most who have Progeria die between the ages of 8 and 21 years. When they do, they have all the signs of extreme, advanced age. Their hair falls out, they have pronounced wrinkles, their subcutaneous fat layers have all but disappeared, their teeth come in late or not at all, and their skin is thin and papery.

Aweful.

There is some good news on the horizon however. According to a report on Genome.gov, “Researchers from the National Human Genome Research Institute (NHGRI) at the National Institutes of Health, the University of Maryland and Massachusetts General Hospital have shown that cells from patients with the rare premature aging condition Hutchinson-Gilford progeria respond to treatment with the antibiotic rapamycin.”

That’s very cool. Why? Because while Progeria only effects one in eight million people…normal people still age, and normal people still die of old age.

That’s a “no duh” statement.

But! Research into the causes of Progeria is shedding light on our normal aging mechanisms. Progeria just happens to speed things up for those with the disease. (An over simplification perhaps.)

Here’s the thing though, In a study, published June 29, 2011in the early online edition of Science Translational Medicine, “researchers treated cells of patients affected by progeria with rapamycin. Rapamycin, currently used to reduce the risk of organ transplant rejection, reversed damage to the cell nucleus seen in progeria, damage caused by an accumulation of the toxic protein progerin inside the cell. The study also showed that rapamycin flushes progerin out of the cell.”

Lead author Kan Cao, Ph.D., is an assistant professor of Cell Biology and Molecular Genetics at the University of Maryland, College Park, a position she has held since September 2010. According to Dr. Cao, ‘Progerin collects as large collections of debris in the cytoplasm after mitosis. Rapamycin helps the clearance of progerin from the cytoplasm. In time, accumulation of progerin is significantly delayed by the affect of rapamycin.”

How does this relate to normal aging?

Dr. Dimitri Krainc, M.D., Ph.D., associate professor of neurology at Harvard Medical School says, “During normal aging our cells accumulate by products of normal cell function. The ability of cells to remove this debris declines with aging. It is thought that even a small activation of these degradation systems that normally exists in cells would extend the health and lifespan of our cells and organs.”

One of the effects of rapamycin is to activate debris-degradation systems in cells.

Dr. Krainc went on to say that, “Progerin that causes progeria also accumulates, although in very small amounts, in normal aging. However, if rapamycin proves to have beneficial effects in lifespan in humans it is safe to assume that it will not be just because it may clear progerin from cells, but also because it clears other toxic products that accumulate during aging.”

The cool thing about all of this, is that this is just the beginning of this type of research. As I’ve noted elsewhere, there is not enough government funding for medical research. With amazing research like that being conducted by Dr. Cao and Dr. Krainc, let’s hope that the government as well as private funders take note…and start pouring on the cash.

Based on the results of the studies mentioned above, a clinical trial looking at the effects of rapamycin in children with progeria is currently being explored.

Let’s hope for a future without aging for all of us.

References:

National Genome Human Research Institute, “Researchers identify potential treatment for the lethal premature aging disorder progeria”, June 29, 2011 http://www.genome.gov, WEB

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