Washington: A team of scientists from Europe, Canada and the US has identified two genetic mutations that cause restless leg syndrome (RLS).
The discovery provides new insights on the origins of one of the most common neurological diseases, and could pave the way for new drugs.
Around 10 percent adults experience RLS at some point in their life. Sufferers experience unpleasant sensations in their legs, which can only be eased by moving, walking or jiggling.
Carriers of these risk variants have an increased likelihood of developing RLS.
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, led by Professor Juliane Winkelmann, looked at 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.