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Mutation in DKC1 Gene Can Cause Rare Aging Disease and Cancer

A rare genetic syndrome, Dyskeratosis Congenita (DC), may hold the key to understanding a mechanism that causes premature aging and cancer. Recreating DC in genetically altered knockout mice, researchers at Memorial Sloan-Kettering Cancer Center and colleagues proved that the disorder was caused, as theorized, by mutations in the DKC1 gene. Unexpectedly, they also showed that DC was caused by a disruption in ribosome function and not due to shortened telomeres (the distal end of a chromosome arm) as previously hypothesized. Their results, published in the January 10 issue of Science, may have implications for development of drugs that kill cancer cells by specifically targeting ribosomes, similar to the way ribosome targets have been key to the development of antibiotics for specific bacterial infections.

Study helps explain gene silencing in developing embryo

In an embryo, certain genes must turn on to, for example, tell cells to develop into a limb. But just as importantly, the genes must then turn off, or go silent, to prevent abrnomral growth. How the genes do that gets some new light in research released out of North Carolina.

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