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UK researchers find genetic marker for intervertebral disc degeneration

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Age-related degeneration of intervertebral discs of the spine has been linked to a genetic marker for the first time, according to UK researchers.

“We have performed, using data collected from around the world, the biggest genome-wide association analysis of lumbar disc degeneration (LDD),” Frances MK. Williams, PhD, FRCP(Edin), a senior lecturer from the Department of Twin Research and Genetic Epidemiology at King’s College in London, stated in a press release. “We know that people whose discs wear out are at increased risk of episodes of lower back pain, but normal human discs are hard to get hold of to study, so until now our knowledge of normal human biology was incomplete.”

 

Frances MK. Williams

After analyzing spine MRIs of 4,600 patients who also had their genes mapped, Williams and colleagues identified PARK2 as a gene associated with LDD.

“The new gene implicated in degenerative disc disease, called PARK2, was not previously suspected of playing a role in disc biology,” Williams told ORTHOPEDICS TODAY.

The researchers found the gene may be switched off in people with the condition, Williams said. Although researchers are still unclear on what triggers cause the gene to switch off, Williams suggests the factors might be lifestyle and diet-related.

“Further work by disc researchers to define the role of this gene will, we hope, shed light on one of most important causes of lower back pain,” Williams said. “It is feasible that if we can build on this finding and improve our knowledge of the condition, we may one day be able to develop new, more effective treatments for back pain caused by this common condition.”

Reference:

Williams FMK, Bansal AT, van Meurs JB, et al. Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects. Ann Rheumat Dis. 2012. Published online before print Sept. 16, 2012. doi: 10.1136/annrheumdis-2012-201551.

Disclosure: This study was funded by the Wellcome Trust and Arthritis Research UK.