Early-onset lumbar disc degeneration-associated mutation identified

October 8, 2013, Journal of Clinical Investigation

Lumbar disc degeneration (LDD) is characterized by pain in the lumbar region of the spine as a result of a compromised disc. 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 in the 3' untranslated region enhanced microRNA binding, resulting in decreased CHST3 expression. 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 expression.

Explore further: Gene linked to age-related degeneration of intervertebral discs identified

More information: Lumbar disc degeneration is linked to a carbohydrate sulfotransferase 3 variant, J Clin Invest. DOI: 10.1172/JCI69277

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