Discovery: Gene Mutation In Scoliosis

Researchers led by scientists at the Medical Genetics Institute at Cedars-Sinai Medical Center have identified a gene mutation and molecular mechanism causing an inherited form of scoliosis. Mutations in the TRPV4 gene cause a type of brachyolmia, a skeletal dysplasia. Those inheriting the disorder have a shorter-than-average trunk, limbs and fingers and toes, and are affected by scoliosis, primarily in the lumbar vertebrae. Mutations of the TRPV4 gene appear to cause increased calcium in the cells of the developing skeleton. 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 treatment. Read More...

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