An international consortium from Europe, Canada and the US has identified new genetic risk factors for RLS, or the Restless Leg Syndrome. The consortium, led by Professor Juliane Winkelmanndiscovered two new genetic regions which play a role in the development of RLS.

Patients suffering from RLS experience unpleasant sensations in their legs, which can only be eased by moving, walking or jiggling. This may result in severe sleeping disorders, chronic sleep loss and daytime fatigue. In severe cases the disease can lead to depression and social isolation.

For many years, the Institute of Human Genetics, Helmholtz Zentrum Munich and the Technische Universität Munich have been researching the origin of RLS, aiming to improve diagnostics and the treatment of patients. The consortium, investigated more than 4,867 RLS patients and 7,280 control patients. The researchers analysed genetic sequence variants (SNPs) distributed over the entire genome and discovered two new genetic regions which play a role in the development of RLS. One of these regions is within a gene involved in regulating brain activity, TOX3. While it is known that increased TOX3 protein protects neuronal cells from cell death, the precise connection between TOX3 and RLS is as yet unknown.

These findings enable further investigation into the underlying mechanisms, which is prerequisite to the development of new treatments.

The finding is published in the open-access journal PLoS Genetics. 

Source: http://www.sciencedaily.com/releases/2011/07/110714191424.htm