RLS gene found in recent study

[mackjergens]

This is posted on another page of this site, but I have not seen it posted on this one. I think its a major happening in the search for answers to RLS. Hopefully now ALL Drs will began to learn about RLS since it is not longer considered just a syndrome, but an actual nuero problem!!! Progress is being made in the search for answers to our problem!!!!!!!

______________________________________________________
Contact: Jennifer Johnson
jennifer.johnson@...
404-727-5696
Emory University
Researchers discover gene responsible for Restless Legs Syndrome

An international team of researchers has identified the first gene associated
with Restless Legs Syndrome (RLS), a common sleep disorder affecting tens of
millions of people worldwide. The findings will be published July 18 in the
online edition of the New England Journal of Medicine and will appear in an
upcoming printed edition of the journal. The work was led by scientists at Emory
University and deCODE Genetics, Inc., in Reykjavik, Iceland.

Restless legs syndrome is a condition that produces an intense, often
irresistible urge to move the legs and is a major cause of insomnia and sleep
disruption. RLS affects approximately 10 percent of the U.S. population and
about one percent of school-aged children. The discovery provides strong new
evidence that RLS is a genuine syndrome, a fact which has recently been the
subject of some debate.

"We now have concrete evidence that RLS is an authentic disorder with
recognizable features and underlying biological basis," says David Rye, MD, PhD,
professor of neurology at Emory University School of Medicine, director of the
Emory Healthcare Program in Sleep, and one of the study's lead authors. "This is
the most definitive link between genetics and RLS that has been reported to
date. We have known for quite some time that the majority of RLS patients have a
close family member with the disorder, and now we have found a gene which is
clearly linked to RLS," says Dr. Rye.

The researchers report a population-attributable risk for RLS of at least 50
percent, meaning that were the gene variant not present, more than half of all
RLS cases would disappear.

The variant is very common--nearly 65 percent of the population carries at least
one copy of the variant. Two copies of the variant more than doubles one's risk
of experiencing RLS.

According to Dr. Rye, having two copies does not ensure that one will develop
symptoms of RLS. "There remain yet-to-be-identified medical, environmental or
genetic factors that appear necessary to translate genetic susceptibility into
RLS symptoms," he says.

RLS researchers have known for some time that anemia and low iron levels
contribute to more severe RLS symptoms. The current study revealed the gene
variant to be more common in Icelandic subjects deficient in iron.

The medical breakthrough is the result of a four-year study led jointly by Dr.
Rye and deCODE Genetics scientist Dr. Hreinn Stefansson. With the goal of
identifying genes causing RLS, the research team conducted genome-wide scans of
nearly 1,000 Icelanders and 188 Americans. A new chip technology was applied
along with genome wide association methods.

This approach allowed Drs. Rye and Stefansson to probe more than 300,000 small
regions (single nucleotides) distributed across the entire genome for
differences more common to RLS sufferers as compared to population-based
controls.

According to Dr. Rye, very little is known about the function of the gene
variant discovered.

"Additional work will be required to translate this knowledge into a plausible
mechanism and, in turn, more rational and better treatments," notes Dr. Rye.
"Future advances will depend upon additional monies which to this point have
come solely from private foundations and industry."

Dr. Rye says RLS is exceedingly common but not taught as a part of standard
medical education, in part leading many medical professionals, educators and
academicians to challenge its commonality and authenticity.

[ViewsAskew]

Welcome to our group, Mack. I don't hang out much at the Yahoo group anymore - just no time.

This is posted in one of the other sections - I think General news, not sure. Thanks for thinking of it, though - rather have it posted several times than not at all