RLS Gene Discovery

Sojourner · Post by **Sojourner** » Thu Jul 19, 2007 6:39 am

Surprised this was not posted yet or maybe I just missed it. But, on the 6:30 national news today there was a segement which stated that two recent studies--one reported in the New England Journal of Medicine--reported they had discovered the gene responsible for RLS! The research apparently was partially funded with a grant from the RLS foundation.

ROCHESTER, Minn., July 18 /PRNewswire-USNewswire/ -- The Restless Legs Syndrome Foundation is proud to announce the discovery of the first gene variant that contributes substantially to risk for restless legs syndrome (RLS). This study was supported in part by a grant from the RLS Foundation and was conducted by physician researcher and RLS Foundation Board member David Rye, M.D., Ph.D. and his collaborators at deCODE Genetics in Reykjavik, Iceland. The results of this study appear in the online edition of the prestigious New England Journal of Medicine.

The researchers discovered a gene variant that appears to be the primary contributor to RLS. The variant is extremely common -- nearly 65 percent of the population of Iceland and the southeastern U.S. carry at least one copy of the variant -- helping to explain why RLS is so common.

To assess the impact of the gene variant upon disease the researchers calculated the "population attributable risk" -- the proportion of RLS cases that would disappear if the identified variant were removed or replaced by what is present in the control population. According to the findings of this study, a conservative estimate is that 50 percent 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 his or her 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."

Lewis M. Phelps, Chair of the RLS Foundation Board of Directors, explains the importance of this finding for people living with RLS, "This ground- breaking discovery by Dr. Rye and his colleagues significantly advances our understanding of the cause of RLS and paves the way for both improved diagnostic methods and better treatment for those living with RLS."

This work was funded by the RLS Foundation and other private sources. The RLS Foundation has funded nearly 30 deserving grants, like Dr. Rye's, which offer the opportunity to advance our understanding of RLS. 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.

Contact: Beth Osowski Phone: 507-287-6465 Toll-Free Information Request: 877-463-6757 (INFO-RLS) E-mail: osowski@rls.org Website: http://www.rls.org/

[b]Website: http://www.rls.org/

The segment contained a bit with a Dr. (?) interpreting a sleep study with the patient experiencing "60 kicks per minute" which sounded more like PLMD but nevertheless....

The segment also intimated that the recent research will give legitemacy to the diagnosis and relief for those who have suffered some degree of ridicule in the past.

Great stuff me thinks!

Kirk · Post by **Kirk** » Thu Jul 19, 2007 11:08 am

I saw this last night. Hopefully there will be better treatments and diagnosis of this crap in the near future

Neco · Post by **Neco** » Thu Jul 19, 2007 11:38 am

Ann posted it in another thread.. I think a research thread or something.

Sojourner · Post by **Sojourner** » Thu Jul 19, 2007 6:38 pm

Oooops!

Sojourner · Post by **Sojourner** » Fri Jul 20, 2007 3:10 am

Just wondering what impact this latest finding will have. Hopefully, people and physicians will take the diagnosis more seriously. Hopefully, some of the younger ones here will benifit from new treatments and perhaps even a "cure" down the line. Let's hope so.

Post by **ViewsAskew** » Fri Jul 20, 2007 5:57 am

I loved that all the reporting about this had a gentle "dig" against the negative press we've had recently about how it isn't "real."

I, too, hope that this leads to more good things to come. Another piece in the puzzle - hopefully that puzzle is starting to take shape and show at least the outline of this whole thing.