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Mutation in DKC1 gene can cause rare aging disease and cancer

New York, January 10, 2003 -- 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.

This is the first example that shows that a defect in ribosome function may cause cancer, said Davide Ruggero, Ph.D., of the Molecular and Developmental Biology Laboratory at Memorial Sloan-Kettering and first author of the study. In the past, we thought of ribosome as an important but passive machine in the synthesis of proteins while our study suggests that it plays a more active role in maintaining proper cellular function.

Dyskeratosis Congenita is an extremely rare, fatal X-linked recessive disease that results in premature aging, severe anemia due to bone marrow failure, and dyskeratosis of the nails, skin hyperpigmentation, and cancer. It is caused by mutations in the DKC1 gene that encodes a protein named dyskerin, which is widely distributed in tissues. Dyskerin is thought to be involved in the regulation of ribosomal function and interacts with the RNA component of telomerase, which is essential in the regulation of telomere length. Patients with DC have in fact, unusually shortened telomeres, which was hypothesized to cause the various features of the disease including genomic instability and, in turn, cance
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Contact: Joanne Nicholas
publicaffairs@mskcc.org
212-639-3573
Memorial Sloan-Kettering Cancer Center
10-Jan-2003


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