Scientists identify gene mutation behind an inherited form of scoliosis
30 Jun 2008, 1444 Hrs

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Washington, June 30 (ANI): A new research led by scientists at the Medical Genetics Institute at Cedars-Sinai Medical Center has found that mutations in the TRPV4 gene lead to an inherited form of scoliosis.

The scientists indicated that the people who inherit this disorder, which is a type of brachyolmia, a skeletal dysplasia, have a shorter-than-average trunk, limbs and fingers and toes, and are affected by scoliosis, primarily in the lumbar vertebrae.

It is believed that mutations of the TRPV4 gene may cause increased calcium in the cells of the developing skeleton.

While this is the first study to identify this mechanism as a contributor to skeletal dysplasias, the findings suggest that calcium channel balance is important in normal spine development.

Also, for skeletal abnormalities caused by TRPV4 gene mutations, the use of calcium channel inhibitors could represent a future approach to

The research was conducted by a multinational team led by scientists at the Medical Genetics Institute at Cedars-Sinai Medical Center. (ANI)