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Researchers discover new gene responsible for brittle bone disease

with recessive forms accounting for recurrence. When each parent has one mutated gene and one normal gene, they have one-in-four chance of having a child with osteogenesis imperfecta.

Funding for the research came from the National Institutes of Health, the Baylor College of Medicine Developmental Disabilities Research Center, and the Shriners of North America. Others institutes participating were the Istituto Nazionale per la Ricerca sul Cancro in Genova, Italy, The Shriners Hospital for Children in Oregon, McGill University in Montreal and The University of Washington in Seattle.

"Beyond OI, there may be other connective tissue disorders caused by mutations in genes associated with 3-prolyl hydroxylation, a process that occurs in many types of tissues," Boyce said. "Current treatment for OI does not cure the disease and is designed to reduce the risk of fracture. Only through a better understanding of the disease at the genetic and protein level will we be able to someday offer something better."
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Source:University of Rochester Medical Center


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