Gene mutation linked to restless legs syndrome

February 4th, 2009 - 5:05 pm ICT by ANI  

Washington, Feb 4 (ANI): Mayo Clinic researchers have identified a genetic link to restless legs syndrome, a common neurologic disorder that interrupts sleep because of unpleasant sensations in the legs at rest, especially in the evening, that are temporarily relieved by movement.
This may be due to iron deficiency, but in the new study, the researchers have discovered a strong genetic component as well.
“In most people, it is likely due to a number of different causes, but genes are very likely the most important factor in affected families,” said Siong-Chi Lin, M.D.
This syndrome could trace back to the ancestry.
During the study, the researchers interviewed a family from Indiana with dozens of individuals spanning multiple generations.
They found that 30 relatives were affected by restless legs syndrome, and discovered that almost three times as many females had the condition compared to males
The study showed that the restless legs syndrome found in the family is likely due to a gene mutation that has never been linked to the disorder.
Until now, five loci, or areas on the genome, have been linked to the syndrome in other families around the world, but this family does not have any of those mutations.
“That means this family likely has a novel gene that is causing the disease,” says the study’’s lead investigator, Carles Vilarino-Guell, Ph.D., a neuroscientist at Mayo Clinic’’s campus in Jacksonville. The researchers have not yet pinpointed the culprit gene, but say they are getting close.
Lead investigator, Carles Vilarino-Guell, Ph.D., a neuroscientist at Mayo Clinic’’s campus in Jacksonville suspect that a novel gene might be causing the disease.
However, the researchers have not yet pinpointed the culprit gene, but say they are getting close.
Dr. Vilarino-Guell said that this family is one of the largest with restless legs syndrome ever studied, and the disorder spans multiple generations
“With so many people in this family affected by the syndrome, we have a lot of power to find the gene mutation causing disease,” he said.
“Once a gene is discovered, researchers can investigate its normal function and the mutation’’s effect, and then can “try to overcome that problem with drug therapy,” he added. (ANI)

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