Issue: January 2013
January 01, 2013
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UK researchers find genetic marker for intervertebral disc degeneration

Researchers believe the PARK2 gene may be switched off in those individuals with intervertebral lumbar disc degeneration.

Issue: January 2013
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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 in the Department of Twin Research and Genetic Epidemiology at King’s College 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. In particular, there are many genes influencing disc degeneration which are still to be identified.”

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.

Frances MK. Williams, PhD, FRCP(Edin)
Frances MK. Williams

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

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 related to lifestyle and diet.

“Further work by disc researchers to define the role of this gene will, we hope, shed light on one of the most important causes of lower back pain,” Williams stated in the press release. “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,” she stated. – by Jeff Craven

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