Genetic risk factor for the restless-leg-syndrome identified
For people with RLS, sitting or lying down often becomes a torment. When they are at rest, they experience a burning, stinging or creepy-crawly sensation in their legs.
Figure: Roche Austria GmbH
Figure: Roche Austria GmbH
Scientists of the National Genome Research Network (NGFN) have identified several genetic variants that increase the risk to develop restless legs syndrome (RLS).
A research team led by Assistant Professor Juliane Winkelmann of the Max Planck Institute for Psychiatry and Professor Thomas Meitinger of the GSF Research Centre for Environment and Health in Munich studied the genetic information of more than 1,500 RLS patients and compared this data with the genetic information of over 2,500 healthy control persons.
The scientists searched for the smallest differences in the DNA sequence, so-called SNPs, in which only one base letter is in the wrong order. “In this way, we discovered genetic variants on chromosomes 2, 6 and 15, each of which increase the risk for RLS by more than 50 percent,” Thomas Meitinger explained.
The MEIS1, BTBD9 and LBXCOR1 genes, which are located in the affected regions, are involved in the formation of the legs and the nervous system during embryonic development. The finding that these genes also play a role in the development of RLS opens up completely new paths for researching the causes of the syndrome and developing innovative therapy approaches. “Until now it was not at all clear what triggers restless legs syndrome,” according to Meitinger. “Our findings clearly show that there are genetic risk factors which – in combination – are responsible for this disease.”
RLS is one of the most common disorders of the nervous system. The incidence is age dependent. Ten percent of over-65-year-olds are familiar with these symptoms: in the evening and at night, when they want to get some rest or go to sleep, they feel a tugging or tingling or other unpleasant sensation in their legs.
Most people find relief by moving or walking around, but as soon as they lie down again, the symptoms come back. The consequence can be severe problems in falling asleep or sleeping through the night, chronic sleep deprivation and thus fatigue during the day. In severe cases the symptoms can lead to depression and social isolation.
