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When your own legs never find peace Riskogens for Restless Legs Syndrome are to blame
About ten percent of Germans are affected by the so-called Restless Legs Syndrome (RLS). The causes of the disease of restless, restless or restless legs are so far largely unknown. However, researchers have now discovered new genetic risk variants for RLS.
Strong urge to move at night
Patients with Restless Legs Syndrome (RLS) experience a strong urge to move at night and suffer from unpleasant sensations such as pain or tingling in the legs. Up to ten percent of the European population is affected, including many children. The causes are largely unknown. An international team, however, now discovered new genetic risk variants.
Patients with Restless Legs Syndrome not only suffer from the actual symptoms of the disease, but also have consequences such as sleep disorders. Little is known about the causes of the disease. Researchers have now gained new insights. (Image: bmf-foto.de/fotolia.com) Pain and tingling in the legs
In RLS, the symptoms occur when the body comes to rest. "Usually this is in the evening and at night, when a pull, tearing or tingling in the legs makes itself felt," writes the German Restless Legs Association on their website.
"Of the RLS patients, these complaints and discomfort are usually described quite differently. They can occur on one side or on both sides or alternately on one side or the other ", the experts continue.
But many sufferers not only struggle with the actual symptoms, but also with the consequences such as sleep disorders, depression or anxiety. In severe cases, those affected must take their entire life medication.
Little is known about causes of the disease
Little is known about the molecular causes and the exact mechanisms of disease.
Prof. Juliane Winkelmann, Professor of Neurogenetics at the Technical University of Munich (TUM) and Head of the Institute of Neurogenomics at the Helmholtz Zentrum München, has been researching this neurological disease for more than ten years with her team.
She and her team have already shown that it also has genetic causes. Together with international partners of the British Cambridge University and the US company "23andMe", it has now carried out the world's largest study on the basis of 45,000 patients, according to a statement.
"We identified a total of 19 risk-associated variants in the genome of the study participants - 13 of them are new," Dr. Barbara Schormair from the Institute of Neurogenomics at Helmholtz Zentrum München, one of the first authors of the study, which was recently published in the journal "The Lancet Neurology".
"We are convinced that our results significantly advance the understanding of the molecular causes of Restless Legs Syndrome," says the expert.
Innate peculiarities of the nervous system
Risk-associated variants are punctual peculiarities of the hereditary molecule, ie the sequence of letters of the DNA, which are more common among those affected than among the non-affected.
Locally or at least close to these variants are genes that have to do with the pathogenesis.
The international team compared the genetic data of 15,000 patients with those of 95,000 individuals from the general population.
In another study with 31,000 new patient records and over 280,000 control records, the results were subsequently confirmed.
In addition, the researchers examined which biological processes are most closely linked to the risk variants and discovered surprising facts:
Genes involved in the embryonic development of the nervous system, in particular, appeared in this study, even though the disease usually does not appear until later in life.
"This suggests that innate peculiarities of the nervous system become apparent later in the form of Restless Legs Syndrome. By understanding this better, we can also think about appropriate therapies, "said Prof. Winkelmann.
"Our genetic study takes us a big step forward in finding new and better medicines for our patients," said the expert.
Dangerous drug as a treatment option
According to the study team, thalidomide could be a possible treatment option - but with limitations. The drug acts on a cellular process, which could also play a role in the restless legs syndrome according to the new study.
Previously, the drug was used under the brand name Contergan as a sleep aid in pregnancy, but has resulted in still unborn children severe malformations. The victims still suffer from the consequential damage.
Today the substance is used against certain cancers.
However, a possible use for the treatment of Restless Legs Syndrome in otherwise untreatable male patients or patients after their fertile phase can only be decided after careful clinical studies, according to the team of scientists. (Ad)