Gene mutation linked to lumbar disc disease
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A mutation in a cartilage-related gene called CILP leads to disease of the vertebral discs in the lower spine, according to a report in the research journal Nature Genetics.
A predisposition to lumbar disc disease runs in families, suggesting that genetic factors are an important underlying cause, Dr. Shiro Ikegawa of the Institute of Physical and Chemical Research, Tokyo and associates point out.
By studying genes that might be involved from 188 people with disc problems and from 376 unaffected “controls,” the researchers identified three genetic variants that could be implicated.
Further analysis in another group of 279 disc patients and 278 controls showed a significant association between one particular mutation in CILP and lumbar disc disease.
The investigators went on to discover that the mutated form of CILP led indirectly to an “inadequate response of intervertebral disc cells to injury and mechanical stress.”
They add that agents to control and modify one of the compounds involved in the disease process, called the TGF-beta, “are promising targets for treatment, presenting a new therapeutic strategy for lumbar disc disease.”
SOURCE: Nature Genetics, online May 1, 2005.
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