Study Identifies Early-onset Lumbar Disc Degeneration-associated Mutation

Pain in the lumbar region of the spine as a result of a compromised disc charecterizes lumbar disc degeneration (LDD).

LDD is fairly common and thought to be the result of both environmental and genetic risk factors; however, the genetic factors that promote LDD are largely unknown. In this issue of the Journal of Clinical Investigation, Danny Chan and colleagues at the University of Hong Kong found mutations that reduced production of carbohydrate sulfotransferase 3 (CHST3) were associated with early-onset LDD. Mutations in families with LDD were mapped to the 3' untranslated region of the CHST3 gene, which contained a microRNA binding site. The authors determined that LDD-associated mutations in the 3' untranslated region enhanced microRNA binding, resulting in decreased CHST3 expression.