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A genetic step for restless leg syndrome
A genetic step for restless leg syndrome

July 18, 2007 (Insidermedicine) Two papers published simultaneously in the online edition of Nature Genetics and in the New England Journal of Medicine report the discovery of regions of the human genome that when mutated can increase a person's susceptibility to the development of restless legs syndrome – an uncomfortable and sleep-robbing neurological disorder characterized by repeated movement of the legs. 

In one study, researchers studied the genetic material of over 400 people with a family history of restless legs syndrome and over 1500 people with no family history of the disorder. Comparisons of the genetic material pinpointed three regions of the genome that were associated with the onset of the disorder. Changes in the normal arrangement of genetic material at these three regions are likely very important in determining a person's susceptibility to restless leg syndrome, since genetic mutations in one or more of the regions were detected in up to 75% of those with a family history of restless legs syndrome. 

The other study published in the New England Journal of Medicine discovered one region of the genome was associated with both restless legs syndrome and a related disorder called periodic limb movements, which is characterized by twitching of the arms and legs.

Until now, there has been suspicion of a genetic link with restless legs syndrome, but no hard evidence. Now this evidence has been provided, and researchers are hoping to better understand the causes of both neurological disorders, by studying the nature of the responsible genetic changes. As well, it is hoped that targets for drug therapy can be identified. The result could be greater comfort and a better nights' sleep for the tens of millions of people diagnosed with restless leg syndrome.

Reporting for Insidermedicine, I’m Dr. Susan Sharma.