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The Restless Legs Syndrome Foundation is proud to announce the discovery of the first gene variant that contributes substantially to the risk for restless legs syndrome (RLS). This discovery was made possible in part by RLS Foundation grant support of physician researcher and Foundation Board member, David B. Rye M.D., Ph.D. and his collaborators at deCODE Genetics in Reykjavik, Iceland.

The results of this study, headed jointly by deCODE Genetics and Dr. Rye, of Emory University in Atlanta, Georgia appear in the online edition of the prestigious New England Journal of Medicine and will also appear in print in the August 16th edition of the journal.

To find this genetic variant, Dr. Rye and colleagues evaluated subjects with RLS who also had periodic limb movements in sleep (PLMS), unconscious movements of the legs during sleep that are measured objectively. PLMS are present in about 90% of people with RLS and are considered a typical expression of RLS. Rye and deCODE colleagues studied RLS with PLMS subjects and control subjects and discovered this genetic variant. They were able to replicate the findings in two additional subject groups: one in Iceland and one in the U.S.

The results of Dr Rye's and deCODE's study revealed that this gene variant appears to be the primary contributor to RLS. To determine how greatly this gene variant impacts the disease, the scientists calculated the "population attributable risk." This is the proportion of RLS cases that would disappear if the identified variant were removed or replaced by a variant present in the control population. According to the findings of this study, a conservative estimate is that 50% of all RLS would disappear if this gene variant were eliminated.

This discovery also provides new information about a person's risk for developing RLS. Dr. Rye and colleagues discovered that the number of gene variant copies a person carries from birth influences the risk of developing RLS. One copy of the variant results in a nearly two-fold risk, and two copies of the gene variant results in as high as a four-fold risk for developing RLS.

It is important to emphasize that having one or two copies of this gene variant does not mandate that a person will develop symptoms of RLS. According to Dr. Rye, "There remain medical, environmental and additional genetic factors that one is prone to in life that translate this risk into RLS symptoms. Examples include iron deficiency, kidney disease, diabetes, neuropathy etc.-all factors that clinicians have long suspected to be associated with RLS."

This work was funded by the RLS Foundation and other private sources and will require increased investment to expand upon these seminal findings. The RLS Foundation has funded nearly 30 deserving grants, like Dr. Rye's, which offer the opportunity to advance our understanding of RLS. "The Foundation is extremely excited to learn the results of this study," said Georgianna Bell, Executive Director of the RLS Foundation. "It is further encouragement to the Foundation and its members that the monies we are devoting to research are integral to the future of people living with RLS. As research advances, we come closer and closer to finding better treatments for RLS, the cause of RLS, and hopefully soon, a cure for this condition."

The RLS Foundation, a 501(c)(3) nonprofit organization, provides information and support for people living with RLS. The RLS Foundation's goals are to increase awareness, to improve treatments, and, through research, to find a cure for RLS. To learn more about this discovery, visit the Foundation's website at www.rls.org.

Locally, the Great San Antonio RLS Support Group increases awareness, holds educational meetings, and provides support to many people and families living with RLS. Visit their website for more information - www.LegsMove.org.