There are only 50 instances hajdú-cheney

ScienceDaily (Mar. 6, 2011)

Scientists have discovered a mutated gene that causes Hajdú-Cheney syndrome, a disorder of bone causes progressive bone loss and osteoporosis (brittle bones). In a study published in

Nature Genetics on March 6, gives life to understanding the possible causes of osteoporosis and highlights the gene as a potential target for treatment of this disease. There are only 50 instances Hajdú-Cheney syndrome (HCS), including severe osteoporosis is a major feature. Osteoporosis is a condition that leads to a decrease in bone strength buy lasix and susceptibility to fracture. This is the most common disease of bone, one of two women and one in five men over 50 years in the UK due to fracture of the disease. It is a serious public health problem, however, this study possible genetic causes of osteoporosis bad. The team of scientists led by the National Institute for Medical Research (NIHR) comprehensive Biomedical Research Centre (BRC) at King's College London and Guy and St. Thomas set out to investigate the genetic causes of housing in order to find clues to the role genes may play in promoting osteoporosis. Using cutting edge technology to identify disease-causing genes known as ExoME sequence, the team could identify a causal NOTCH2 gene using DNA only three unrelated patients Housing. The team then confirmed their findings in an additional 12 affected families, 11 of which were changes in the same part of the same gene. Professor Richard Trembath, Head of King's College London, Genetics and Molecular Medicine and Medical Director of the NIHR BRC, said: We still know very little about the genetic mechanisms of severe disease of bone. These data add to our understanding of the unusual state of housing and an important basis for developing further research into more common forms of osteoporosis, including the development of potential new treatments. Research partially funded by the British Heart Foundation, and cure children of New Zealand. Recommend this story on Facebook, Twitter

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and Google +1: Other Bookmark and collaboration: History Source: above story is reprinted with provided through, services AAAS. Note: materials may be edited for content and length. For more information, please contact the source listed above. Journal Links Michael Simpson, Melita D Irving, Esra Asilmaz, Mary J Gray, Dimitry Dafou, Francis V Elmslie Sugar Mansour, Sue E holder, Caroline Brain E, K-Barbara Burton, Catherine H Kim, Richard M. Pauli, Salim Aftimos, Ellen Stewart, Kim Chong AE, Muriel Holder Espinasse, Stephen Robertson, P, M Drake, William Richard C Trembath. Mutations in NOTCH2 cause Hajdú-Cheney syndrome, a disorder of severe and progressive bone loss. Nature Genetics, March 6, 2011 DOI:

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