Bone Disease Secret Revealed

(Ivanhoe Newswire) -- Scientists have uncovered a genetic secret about previously unexplained forms of osteogenesis imperfecta (OI), a genetic condition that weakens the bones.

A newly identified gene contains the information necessary to make a protein called Cyclophilin B, partly responsibly for modifying and folding collagen. Collagen is essential for holding together bone, tendons and skin.

While most types of OI involve mutations in collagen itself, researchers discovered some forms require both the collagen mutation and the imperfection involving Cyclophilin B.

"The discovery provides insight into a previously undescribed form of osteogenesis imperfecta," Alan E. Guttmacher, M.D., acting director of NIH's Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), was quoted as saying. "The advance also provides new information on how collagen folds during normal bone formation, which may also lead to greater understanding of other bone disorders."

Experts say additional research is needed to determine why children with the mutation in Cyclophilin B developed OI and suspect another, currently unknown protein could also be involved.

Source: New England Journal of Medicine, published online January 20, 2010

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