Most types of osteogenesis imperfecta (OI), also known as brittle bone disease, that have been identified relate to a dominant mutation in collagen. The type involving the newly discovered Cyclophilin B gene corresponds to a recessive trait, and individuals need two defective copies of the Cyclophilin B gene to develop OI.
The gene is needed to make the protein Cyclophilin B, part of a complex that modifies collagen by folding it into a precise molecular configuration before it is secreted from cells.
Reference:
Barnes AM, Carter EM, Cabral WA, et al. Lack of Cyclophilin B in osteogenesis imperfecta with normal collagen folding. N Engl J Med. 2010. E-pub ahead of print.Read more..
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