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Restless Legs Syndrome: New Gene Clues

Researchers Find the First Gene Variations Tied to Restless Legs Syndrome
By
WebMD Health News
Reviewed by Louise Chang, MD

July 18, 2007 -- Two new studies identify the first gene variants associated with restless legs syndrome.

The studies appear in today's online editions of The New England Journal of Medicine and Nature Genetics.

Together, the studies pinpoint three common genetic variations that are linked to restless legs syndrome. The findings may lead to new treatments for restless legs syndrome, according to the researchers.

Other genes -- and environmental factors -- may also affect restless legs syndrome, in which people feel an irresistible urge to move their legs, particularly in the evening and at night.

Restless Legs Syndrome Genetics

The study published in The New England Journal of Medicine comes from doctors including Kari Stefansson, MD, PhD, of Decode Genetics in Reykjavik, Iceland, and David Rye, MD, PhD, an Emory University neurology professor.

They scanned the genes of 306 people in Iceland who have restless legs syndrome and more than 15,600 people in Iceland without restless legs syndrome.

The gene scans show that a certain variation in the BTBD9 gene was associated restless legs syndrome and other periodic limb movements during sleep.

The researchers confirmed that finding in follow-up gene studies in Iceland and the U.S.

The scientists don’t know exactly what the BTBD9 gene does. But their data suggest that eliminating that particular variation of the BTBD9 gene would wipe out half of the Icelandic and U.S. cases of restless legs syndrome that they studied.

"This is the most definitive link between genetics and RLS (restless legs syndrome) that has been reported to date," Rye says in an Emory University news release.

The study was partly funded by the Restless Legs Syndrome Foundation. Several of the researchers, including Rye and Stefansson, note ties to various drug companies or other financial interests in the topic.

The findings "offer hope to patients with periodic limb movements in sleep and RLS that the syndrome's pathophysiology [cause] will be understood and that such knowledge will lead to additional effective and durable treatments," writes editorialist John Winkelman, MD, PhD.

Winkelman works in the division of sleep medicine at Boston's Brigham and Women's Hospital and Harvard Medical School. His editorial appears in today's online edition of The New England Journal of Medicine.

More RLS Gene Clues

The BTBD9 gene also stood out in the restless legs syndrome gene study published in Nature Genetics.

So did two other gene variations -- one in the MEIS1 gene and the other in a chunk of DNA shared by the MAP2K5 and LBXCOR1 genes.

The researchers who pinpointed those genetic regions included Juliane Winkelmann, MD, of the Institute of Human Genetics in Munich, Germany. She's not related to editorialist John Winkelman.

The scientists screened the genes of more than 4,300 Germans and Canadians, including more than 1,500 people with restless legs syndrome.

The three gene variants identified in the study are common, but they may not be the only genes involved in restless legs syndrome, Winkelmann's team notes.

Winkelmann and five of her colleagues have filed a patent application connected to their research. They report no other competing financial interests.

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Sleep deprivation can have both short- and long-term consequences. Learn more about the health consequences of sleep loss. If you're concerned about having trouble falling asleep or staying asleep, assess your risk for a sleep disorder.

It's not surprising you feel that you're not functioning at your best today. Some people say they can function on four to six hours of sleep each night, but research shows that adults who get fewer than seven hours of sleep — whether for just one night or over the course of days, weeks, or months — have more difficulty concentrating and more mood problems than people who sleep seven to nine hours.

Since you usually get too little sleep, please talk to your doctor about your sleep patterns. Poor quality sleep can affect many areas of your life and health, and your doctor may be able to help you if you have difficulty sleeping, have insomnia, or have other sleep disorders.

Learn more about the health consequences of sleep loss. If you're concerned about having trouble falling asleep or staying asleep, assess your risk for a sleep disorder.

It's not surprising you feel that you're not functioning at your best today. Some people say they can function on four to six hours of sleep each night, but research shows that adults who get fewer than seven hours of sleep — whether for just one night or over the course of days, weeks, or months — have more difficulty concentrating and more mood problems than people who sleep seven to nine hours.

It's good that you usually do get more sleep, since sleep deprivation can have both short- and long-term consequences. Learn more about the health consequences of sleep loss. And if you're concerned about having trouble falling asleep or staying asleep, assess your risk for a sleep disorder.

You say you are able to function well with fewer than seven hours of sleep. Some people say they can function on four to six hours of sleep each night, but research shows that adults who get fewer than seven hours of sleep — whether for just one night or over the course of days, weeks, or months — have more difficulty concentrating and more mood problems than people who sleep seven to nine hours.

It's good that you usually do get more sleep because sleep deprivation can have both short- and long-term consequences. Learn more about the health consequences of sleep loss. And if you're concerned about having trouble falling asleep or staying asleep, assess your risk for a sleep disorder.

It's not surprising you feel that you're not functioning at your best today. Some people say they can function on four to six hours of sleep each night, but research shows that adults who get fewer than seven hours of sleep — whether for just one night or over the course of days, weeks, or months — have more difficulty concentrating and more mood problems than people who sleep seven to nine hours.

Since you usually get less sleep, please talk to your doctor about your sleep patterns. Poor quality sleep can affect many areas of your life and health, and your doctor may be able to help you if you have difficulty sleeping or have insomnia or other sleep disorders.

Learn more about the health consequences of sleep loss. If you're concerned about having trouble falling asleep or staying asleep, assess your risk for a sleep disorder.

It's wonderful that you got a good night's sleep last night. Many people struggle to do so. Having a good sleep routine often is the key to getting the quality sleep night after night that your body needs for optimal health. Whether your sleep routine involves taking a warm bath, reading a book, or meditating, it's important to keep your bedtime and routine consistent every night and wake up around the same time every morning.

Click here to read more about the importance of sleep. If you're concerned about having trouble falling asleep, staying asleep, or sleeping too much, assess your risk for a sleep disorder.

It's unfortunate you're not functioning at your best today. You say you had a good quantity of sleep last night, but maybe the quality of your sleep is not as good as it could be? Having a good sleep routine — including a consistent bedtime and wake time — often is the key to getting the quality sleep night after night that your body needs for optimal health. Since you usually sleep this amount, if you often aren't feeling your best, you should consider talking to your doctor. Could you have an underlying condition? Are you feeling anxious or depressed? Have you taken medication that disrupted your sleep? Do you or could you have sleep apnea? Or do you naturally require a little bit more sleep?

Although sleep is crucial for optimal health, some research suggests that sleeping too much can also have negative consequences. Learn more about sleep. If you're concerned about having trouble falling asleep, staying asleep, or sleeping too much, assess your risk for a sleep disorder.

It's unfortunate you're not functioning at your best today. You say you had a good quantity of sleep last night, but maybe the quality of your sleep is not as good as it could be? Having a good sleep routine — including a consistent bedtime and wake time — often is the key to getting the quality sleep night after night that your body needs for optimal health. Since you usually sleep longer, if you often aren't feeling your best, you should consider talking to your doctor. Could you have an underlying condition? Are you feeling anxious or depressed? Have you taken medication that disrupted your sleep? Do you or could you have sleep apnea? Or do you naturally require a little bit more sleep?

Although sleep is crucial for optimal health, some research suggests that sleeping too much can also have negative consequences. Learn more about sleep. If you're concerned about having trouble falling asleep, staying asleep, or sleeping too much, assess your risk for a sleep disorder.

It's wonderful that you got a good night's sleep last night. Many people struggle to do so. Having a good sleep routine often is the key to getting the quality sleep night after night that your body needs for optimal health. Whether your sleep routine involves taking a warm bath, reading a book, or meditating, it's also important to keep bedtime consistent and wake up around the same time every morning.

Although sleep is crucial for optimal health, some research suggests that sleeping too much can have negative consequences. Learn more about sleep. If you're concerned about having trouble falling asleep, staying asleep, or sleeping too much, assess your risk for a sleep disorder.

It's unfortunate you're not functioning at your best today. You say you had a good quantity of sleep last night, but maybe the quality of your sleep is not as good as it could be? Having a good sleep routine — including a consistent bedtime and waking up at the same time — often is the key to getting the quality sleep night after night that your body needs for optimal health.

Since you usually get less sleep, please talk to your doctor about your sleep patterns. Poor quality sleep can affect many areas of your life and health, and your doctor may be able to help you if you have insomnia, another sleep disorder, or conditions affecting your sleep.

Learn more about the health consequences of sleep loss. If you're concerned about having trouble falling asleep or staying asleep, assess your risk for a sleep disorder.

It's wonderful that you got a good night's sleep last night. Many people struggle to do so. Having a good sleep routine often is the key to getting the quality sleep night after night that your body needs for optimal health.

Since you usually get less sleep, talk to your doctor about your sleep patterns. Poor quality sleep can affect many areas of your life and health, and your doctor may be able to help you if you have insomnia or another sleep disorder or conditions affecting your sleep.

Learn more about the health consequences of sleep loss. If you're concerned about having trouble falling asleep or staying asleep, assess your risk for a sleep disorder.

SOURCES:

Centers for Disease Control and Prevention (CDC). Effect of short sleep duration on daily activities--United States, 2005-2008. MMWR Morb Mortal Wkly Rep 2011; 60:239.

Carskadon, MA, Dement, WC. Normal Human Sleep: An Overview. In: Principles and Practices of Sleep Medicine, Fifth, Kryger, MH, Roth, et al. (Eds), Elsevier Saunders, St. Louis, MO 2011. p.16.

Harvard University: "Sleep, Performance, and Public Safety."

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