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Restless Legs Syndrome: New Name Candidate Genes for RLS Sufferers

Tim Boyer's picture
Sleep Paterns of RLS

Do you ever experience tingling, numbness or an itching sensation in your legs? Does it feel as if insects are crawling on your legs while you are lying in bed or sitting in an easy chair? Do these sensations disappear once you get up and move around? If so, you may be one among millions of Americans suffering from Restless Legs Syndrome (RLS)—a neurological disease that affects up to 10% of the world. While the exact causes of Restless Legs Syndrome remains elusive, recent research in a worldwide study reports the discovery of candidate genetic regions that may be linked to RLS.

Name Change and Symptoms of Restless Legs Syndrome

Restless Legs Syndrome is a serious medical condition that can lead to sleep apnea and stress. However, the negative trivializing of RLS in TV commercials and the positive scientific legitimizing of the condition has prompted RLS sufferers and their supporters to institute a name change to “Willis-Ekborn Disease.” Diagnostic criteria for RLS (Willis-Ekborn Disease) include:

• Symptoms involve uncomfortable sensations in legs and a strong urge to move
• Symptoms increase in severity with time spent at rest
• Symptoms disappear upon moving around
• Symptoms are worse during the evening hours

Recent Research on RLS

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In a genome wide study involving 922 patients with RLS and 1,526 non-RLS controls, a search of genetic regions linked to a susceptibility to RLS was made in an international collaboration involving U.S., Canadian and European researchers from several scientific disciplines. Their analysis involved searching and comparing single nucleotide polymorphisms or SNPs (pronounced “snips”) between patients with the disease and control subjects.

SNPs are DNA sequence variations that occur at a single nucleotide (A, G, C or T) that can result in an altered protein and disease. However, not all SNPs cause disease. Some occur in non-coding regions of DNA and serve as useful markers in locating and identifying a nearby gene or genes involved in a disease. Basically, if a particular SNP is found near a region that is highly conserved and is common only among patients with RLS, then that SNP and its loci (genetic region) may indicate an association with or a susceptibility to RLS.

The result of the research was the discovery of six candidate regions of DNA sequence. Two of which are novel and located near known genes that are suspected to have ties with the central nervous system.

The significance of this study is three-fold: it adds support to the findings of previous research toward mining for RLS-linked genes; it presents two novel candidate genes for further research; and, it adds legitimacy to a medical condition that is in need of media recognition as a serious disease rather than one to be made light of.

RLS Awareness
RLS Awareness Week commences on Sunday September 18, 2011 and ends on Saturday September 24, 2011. National Awareness Day for RLS is Friday September 23. For more information about RLS and to become an active member in supporting their cause, go to rls.org.

Winkelmann J et al. Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12; PLoS Genetics, July 2011
Restless Legs Syndrome Foundation, Inc. www.rls.org
Image source of Sleep Paterns of RLS: Wikipedia