Often misunderstood and frequently joked about, research into new treatments for restless legs syndrome, dubbed 'jimmy legs' on the sitcom "Seinfeld," took a distinctly serious turn with a pair of studies that identifies three gene variations believed responsible for the condition. The night-time twitching impairs the sleep of a significant percentage of people and new therapies building on the genetics research would appeal to a large market.
Scientists at deCODE genetics in collaboration with colleagues from Emory University discovered that the single-letter marker, or SNP, in the BTBD9 gene on chromosome 6 was associated in Icelandic and U.S. cohorts with an increased risk of RLS with PLMs of 70-80 percent for those who carry one copy compared to those without the variant. It is believed to account for approximately 50 percent of cases and was shown to associate with decreased stores of iron in the body.
"This discovery demonstrates the power of genetics not only for uncovering the biological causes of disease, but also for defining diseases such as RLS and establishing them as medical conditions," said Dr. Kari Stefansson, the CEO of Iceland's deCODE.
- see deCODE's release
- read the report from the Boston Globe