October 21, 2013
A genetic variation found after searching the genome of families in China, Japan and Finland with a history of lumbar disc degeneration has been linked to an increased susceptibility to the disease, according to researchers from the University of Hong Kong.
“Our finding provides a key functional link of this variant form of the [carbohydrate sulfotransferase 3] CHST3 gene to [lumbar disc degeneration] LDD and showed for the first time a new mechanism involved in the molecular pathogenesis of LDD,” You-Qiang Song, PhD, from the Department of Biochemistry at the University of Hong Kong, stated in a press release.
Song and colleagues analyzed the genomes from a group of Southern Chinese from Hong Kong, North Chinese, Japanese and Finnish families comprising 4,042 cases matched against a control group of 28,559 cases. They identified the gene CHST3 as a risk factor – the gene codes for an enzyme that ensures the central compartment of a disc stays hydrated.
In genomes where the variant exists, messenger ribonucleic acid (mRNA) are more likely to be degraded that instruct synthesis of this gene, and these mRNA were significantly reduced in the intervertebral disc cells of people with LDD, according to the release.
The researchers plan to conduct more genome-wide studies to assess other susceptibility genes for LDD.
Reference:
Song Y-Q. J Clin Invest. 2013;doi:10.1172/JCI69277.
Disclosure: The authors have no relevant financial disclosures.