To date, five loci, or areas on the genome, have been linked to restless legs 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 Vilario-Gell, 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.
This study is important, Dr. Vilario-Gell says, because this family is one of the largest with restless legs syndrome ever studied, and the disorder spans multiple generations. Therefore, the gene linked to the syndrome is widespread among the affected relatives, increasing the chances that the researchers will soon zero in on the gene responsible.
"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 says.
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 says. They can also trace the molecular route from the gene mutation to the disorder, and see if the other loci linked to the syndrome lie along this pathway. So far, no one has found a definitive link between restless legs syndrome and a specific gene mutation, but large families hold the clues for these discoveries, says Dr. Vilario-Gell.
|Contact: Kevin Punsky|