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People with Restless Leg Syndrome (RLS) have real difficulty getting a good night sleep and scientists may be closer to understanding why.  Earlier research indicated that there may be a link between a specific gene, called BTBD9, and the symptoms most commonly experienced with Restless Leg Syndrome.  This finding encouraged additional research which seems to confirm the original finding and is opening the door to more in depth study of how the gene and the disorder are linked that may provide better treatment options or even a cure someday.

Restless Leg Syndrome is a neurological condition that makes it very difficult for those who have it to get a good night’s sleep or even relax.  People with Restless Leg Syndrome experience a variety of unpleasant sensations in their limbs that are often only abated by moving the limb.  These sensations keep people awake, wake them up when they are asleep, and result in a significantly disrupted sleep pattern.  Symptoms are worse when the person is lying down or trying to relax.   Unable to get the sleep they need, people with RLS suffer from daytime sleepiness, problems concentrating, and other symptoms related to sleep deprivation.  They may have memory impairment, be unable to drive, and find it difficult just to get through the day.

Building on the findings from the 2007 study, the research team engineered fruit flies to have a faulty BTBD9 gene so that they could study the effect this modification had on the flies’ ability to sleep.  Amazingly, the fruit flies with the faulty gene experience almost exactly the same symptoms as humans with RLS do while trying to sleep.

Fruit flies carry their own version of the BTBD9 gene and when researchers turned it off, it had a significant impact on their sleep.  Observing the flies, the team noted that although all the fruit flies slept for the same amount of time per day, those flies with the faulty gene did not sleep straight through.  Instead, their sleep was fragmented and they show signs of experiencing similar symptoms in their lower extremities.    The flies with the gene turned off also moved around more, walked around more, and appear to being mimicking the limb movements of people with RLS.

For people with the condition, both studies provide a vindication of sorts.  For years, RLS has been on the list of ailments that some people do not believe are real but rather believe were invented by the pharmaceutical industry in order to sell new drugs.  This finding paired with the original research seems to remove any remaining doubt that RLS is a real medical condition.  For this reason alone, the findings are significant.

As a result of the findings, research teams will look to expand their understanding of what the gene does, how it gets mutated or turned off, and what is causing the involuntary movements and unpleasant sensations.  This information can provide the basis for new and more effective treatment options, and possible, one day, even a cure.

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