Rare Aging Disease May Provide Insight into Common Cellular Process

Progeria is a rare disease characterized by accelerated aging, beginning at birth.  It can be due to a de novo mutation of a single nucleotide within a gene on chromosome 1, or autosomal dominant or recessive inheritance.  This leads to the production of mutated progerin protein.  Mutated protein is difficult to clear from the cell, and causes misshapen and dysfunctional nuclei.

A recent study suggested that rapamycin, an immune suppression drug, may activate the cell's waste removal system and lead to better cell function.  Human trials are being discussed.

Accumulation of waste products is a feature of other human diseases, such as Alzheimer's and Parkinson's.  Part of the excitement around the discovery of rapamycin's effect is the possibility that it may be helpful in these more common diseases.

Links:
CNN Article on Progeria and Rapamycin
OMIM reference to progeria