Public release date: 16-Jun-2005
E-mail Article
Contact: Charlie Osolin
osolin1@llnl.gov
DOE/Lawrence Livermore National Laboratory Researchers track down cause of a disfiguring bone disorder Missing long-range regulatory element gives rise to Van Buchem disease DNA sleuths Jessie Chang (left), Nicole Collette and Gabriela Loots have located the regulatory element whose absence is responsible for Van Buchem disease."
Full size image available here LIVERMORE, Calif. Scientists have tracked down the biological trigger that gives rise to Van Buchem disease, a hereditary, disfiguring bone disorder that can cause blindness and deafness. The findings provide insight into long-range gene regulation and could lead to new treatments for osteoporosis and other crippling bone disorders. A research team from Lawrence Livermore and Lawrence Berkeley national laboratories, the Novartis Institutes for BioMedical Research in Switzerland, and the DOE Joint Genome Institute in Walnut Creek, Calif., characterized a human mutation associated with the malfunctioning of the sclerostin, or SOST, gene, and showed that it plays a key role in regulating bone formation. The culprit is a regulatory element in a missing 52,000-base-pair stretch of DNA that normally directs the SOST gene to produce a protein that maintains control of bone formation rates. Without this regulator, bone production goes up, progressively increasing bone density, or osteosclerosis. The effect primarily occurs in the skull and lower jaw of Van Buchem patients, causing facial distortions and pinching cranial nerves, which can lead to deafness and blindness. Collarbones, ribs and long bones can also be affected. | |
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