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Related terms: Brittle bone disease

New Gene ID'd in Brittle Bone Disease

Posted 21 Jan 2010 by

WEDNESDAY, Jan. 20 – A new gene involved in a recessive form of brittle bone disease has been pinpointed by researchers. The gene is the third to be identified in a sequence of genes involved in previously unexplained forms of osteogenesis imperfecta, a sometimes fatal genetic condition that weakens bones, resulting in frequent fractures. The new gene, discovered by U.S. National Institutes of Health researchers and their colleagues, is involved in the production of Cyclophilin B, which is part of a complex of three proteins that folds collagen into a precise molecular configuration before it's secreted from cells. Collagen acts as the molecular scaffolding that holds together bone, tendons, skin and other tissues. Most types of osteogenesis imperfecta are the result of a dominant mutation in collagen itself, requiring only one copy of the mutated gene to cause the condition, the ... Read more

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