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Academic Journal
Main Category: Back Pain
Also Included In: Genetics; MRI / PET / Ultrasound
Article Date: 23 Sep 2012 - 0:00 PDT
Current ratings for:Gene Flaw Linked To Lower Back Pain
A new study published online first in the journal Annals of Rheumatic Diseases on 19 September, shows how for the first time researchers have identified a gene linked to a common cause of lower back pain: a condition known as lumbar disc degeneration (LDD). While more research is needed to fully understand the link, the team, from King's College London, hopes the study will lead to new treatments for the condition.
LDD is a common age-related problem: for instance, over a third of women aged 30 to 50 will have at least one degenerate disc in their spine.
When the disc degenerates it becomes dehydrated, loses height, and the vertebrae on either side develop bony growths called osteophytes. As these changes take place, they cause or exacerbate lower back pain.
Back pain is not a well understood condition, despite the fact it "can have a serious impact on people's lives and is one of the most common causes of sickness leave, costing both the NHS and UK economy billions each year," first author, Frances Williams, Senior Lecturer in the Department of Twin Research and Genetic Epidemiology at King's College London, says in a press statement.
In the case of LDD, scientists have for some time believed genes are involved, because up to 4 out of 5 people with LDD inherit the condition.
Williams and colleagues are the first to suggest there is a link between LDD and a gene called PARK2.
For their study, the researchers examined spinal MRI scans of 4,600 people whose genes had been mapped using genome-wide association (GWA) techniques.
They analyzed the MRI scans using a measuring technique they had developed, which they describe in their paper as "a continuous trait based on disc space narrowing and osteophytes growth which is measurable on all forms of imaging (plain radiograph, CT scan and MRI)".
The participant data came from "five cohorts of Northern European extraction each having GWA data imputed to HapMap V.2".
Using meta-analysis techniques (a statistical method that allows data from studies of similar design to be pooled and analyzed as if they came from one large study), the researchers compared the MRI measures with the genome data, and found a strong link between a variant of PARK2 and the presence of degenerate discs.
This led them to suggest the gene affects the rate at which the discs degenerate.
"We have performed, using data collected from around the world, the biggest genome-wide association analysis of lumbar disc degeneration (LDD)," says Williams.
"We have identified a gene called PARK2 as associated with LDD. We have shown that the gene may be switched off in people with the condition," she adds.
Although they don't know exactly how this happens, the researchers suggest environmental factors are involved, for instance lifestyle and diet. These factors could trigger epigenetic changes that in turn switch off the gene.
The team hopes disc researchers will now take the findings further, and discover exactly what role PARK2 plays:
"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," says Williams.
Funds from the Wellcome Trust and Arthritis Research UK paid for the study.
Written by Catharine Paddock PhD
Copyright: Medical News Today
Not to be reproduced without permission of Medical News Today
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"Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects"; Frances M K Williams, Aruna T Bansal, Joyce B van Meurs, Jordana T Bell, Ingrid Meulenbelt, Pradeep Suri, and others; Annals of Rheumatic Diseases, Published Online First, 19 September 2012; DOI:10.1136/annrheumdis-2012-201551; Link to Article. Additional source: King's College London.
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posted by Donna Soulen on 6 Nov 2012 at 6:22 pm Thank you for this invaluable information. My father, aunt, sister and myself have degenerative disc diease. My grandmother warned me to take care of my back after my second child was born because of "weak backs on my paternal family side."
This gives me some hope for further generations since my daughter and nephew are showing signs of back related problems.
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posted by Bill Yancey on 30 Sep 2012 at 8:46 am See what your genes think of this:
Grab your right thumb with your left hand. Now bend your right thumb toward your right elbow until you feel pain. Got some pain? Good. Now stop bending your thumb.
How does that relate to back pain? Bend at the waist into any position you like. Hold that position long enough and you will eventually have pain somewhere. Just like in your thumb, you are stretching muscles, tendons, nerves, and ligaments farther and longer than they were designed to be stretched. You may also be compressing cartilage, discs, nerves, and bone longer and harder than they were designed to be compressed.
The pain is your body asking you to stop doing whatever it is that causes pain. You have stressed your back. If you stop stretching or compressing before you feel pain, or as soon as you feel pain, there is little chance you have done any permanent damage. I.e., stop pulling on your thumb!
If you continue to pull on your thumb, or stress you back, then worse things happen. A strain is a torn muscle or tendon. A sprain is a torn ligament. You can also damage nerves, tear cartilage, tear discs, and break bones, if you allow the stress to continue long enough. Torn muscles, ligaments, and tendons take 2-12 weeks to heal, depending on how much damage you did. Some cartilage doesn't have the blood supply to heal well, but most heals in about the same amount of time. A bone contusion or fracture can take 6-18 weeks to heal. Nerves can take three months to heal.
Most severely damaged tissue heals with scar tissue, which is not as strong as the original tissue. To make up for the lost strength, surrounding tissue must be stronger than it was before the injury, or repeat injuries become common.
Chronic stress on your back causes pain, i.e. if your stretch or compress long enough you will have pain. Poor posture, overwork, being overweight, sudden motions, etc. all can lead to back pain. Most of our low back pain is due to accumulated stress: we sit too long with poor posture; we lift incorrectly, or too often, or too heavy an object; we weigh too much.
Some low back injuries occur from sudden changes in direction, i.e., trauma: falls, motor vehicle accidents, collisions in sports, etc. The healing process is the same for both types of stress.
After enough accumulated stress our pain becomes semi-permanent. It doesn't go away when you let loose of your thumb. Then you have to take time to heal; 2 -12 weeks. Avoid the damage. Change positions a lot. Monitor your posture. Lift with your legs and a neutral spine. Get help lifting heavy objects. Lose weight if necessary. Keep active. Exercise in moderation. STOP WHEN YOU HAVE PAIN!
Your genes may make it more likely that you have back pain, but how you treat your back determines if you will.
Bill Yancey, MD
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posted by karen on 24 Sep 2012 at 7:58 pm Thanks a lot for the info of lower back pain. It's always nice to know more about it.
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