Mutation in Rare Dyskeratosis Congenita Disease Gives Insight into Cancer and Aging

Genetically-modified mice provide a new clue on the origins of premature aging and cancer.
The rare genetic syndrome dyskeratosis congenita (DC) has been re-created in mice by researchers at the Memorial Sloan-Kettering Cancer Center. DC leads to premature aging, severe anemia and cancer – and is always fatal, though thankfully extremely uncommon. The new research may help shed light on how aging and cancer occur.

Mutations in a gene called DKC1 were found to reproduce the disease in genetically-modified mice. It had been thought that the mutation caused a shortening in the chromosomes, and this is what caused the cancer and premature aging in DC. But this was not the case. Instead, there was dysfunction in the ribosomes, the tiny structures within the cell which make protein molecules. This was a surprise, for ribosomes had never been suspected of playing a role in cancer. The study opens up a new avenue in cancer research for it may now be possible to develop novel drugs that target ribosome function.

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