Genetic defect linked to dyskeratosis congenita

A new study shows that specific defects in RNA translation during protein production underlie dyskeratosis congenita, an inherited disorder which affects the skin, mucous membranes, multiple organ systems, and may lead to bone marrow failure. Dyskeratosis congenita results from a mutation in the DKC1 gene, which affects ribosome function (where proteins are produced in the cells). Researchers at the Fox Chase Cancer Center in Philadelphia studied the DKC1 mutation in cells and found a decrease in production of certain proteins due to a specific defect in RNA translation in the ribosomes. Knowing this defect in protein production exists might lead to treatments that target the defect. The research was published in the May 12, 2006, issue of Science.