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Mouse Research Sheds New Light on Human Genetic Diseases

A team of researchers at Penn State University has announced important findings about the causes of three human diseases: severe, juvenile-onset diabetes; osteoporosis; and Wolcott-Rallison Syndrome, a rare condition whose sufferers exhibit a combination of diabetes, retarded growth, and skeletal abnormalities. Their work suggests promising lines of research for the therapeutic treatment of these diseases. The work will be described in an article in the August 2003 issue of the journal Endocrinology.

Researchers identify new cancer drug target

Tumor cells have evolved a crafty scheme for protecting themselves from the killing power of the host immune system; in part, they disable the immune response. New studies implicate a receptor for prostaglandin E2 (PGE2) in this phenomenon of tumor-induced immune suppression. The findings, published in the March 1 Journal of Clinical Investigation, suggest that drugs that block the PGE2 receptor, called EP2, might restore the immune system’s tumor-killing capacity.

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.