Mutations in a gene called TRPV4 lead to an inherited form of scoliosis, scientists at the Medical Genetics Institute at Cedars-Sinai Medical Center have found.
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.