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
Furthermore, patients with early-onset LDD had decreased CHST3
mRNA levels in interevertebral discs. This study indicates that LDD development can be predicted by decreased CHST3