discovered genetic clues to the cause of restless leg syndrome, a condition common among older adults, which may help in identifying those at greatest risk and finding potential treatments. Restless leg syndrome can cause uncomfortable sensations in the legs and disrupt sleep.The strong desire to move the legs is a common symptom of restless leg syndrome. This can occur occasionally or daily, with symptoms typically worsening at night and making it difficult to sleep. Despite being common in older adults, the exact causes of the condition are still not well understood. It is known, however, that people with restless leg syndrome often have other health conditions such as depression, anxiety, cardiovascular disorders, hypertension, and diabetes. Previous research has identified 22 genetic risk loci associated with the condition.The condition is still not fully understood, particularly in terms of the genetic factors that may contribute to increased risk. Currently, there are no identifiable genetic markers that can definitively diagnose the condition. To delve deeper into this issue, a team of researchers from the Helmholtz Munich Institute of Neurogenomics, Institute of Human Genetics of the Technical University of Munich (TUM), and the University of Cambridge collaborated to combine and analyze data from three genome-wide association studies. These studies aimed to identify differences in the DNA of patients compared to healthy individuals, in order to better understand the condition.
The study found a strong genetic link to restless leg syndrome, using a dataset of over 100,000 patients and 1.5 million unaffected controls. The results are published in Nature Genetics. Co-author Dr. Steven Bell of the University of Cambridge stated that understanding the genetic basis of the condition could lead to better ways to manage and treat it, potentially improving the lives of millions affected worldwide.
The team identThe researchers have identified over 140 new genetic risk loci, bringing the total number known to 164, with three located on the X chromosome. Despite the condition being twice as common in women as in men, no strong genetic differences were found between the two genders, indicating that a complex interplay of genetics and environment, including hormones, may contribute to the observed gender differences in real life.
Two of the genetic differences identified by the team involve genes called glutamate receptors 1 and 4, which play a crucial role in nerve and brain function. These findings could have significant implications for the understanding and treatment of the condition.New drugs could target restless leg syndrome, and existing drugs like perampanel and lamotrigine have shown promise in early trials. Researchers believe that basic information like age, sex, and genetic markers could accurately predict the severity of restless leg syndrome in nine out of ten cases. To understand the impact of restless leg syndrome on overall health, the researchers used a technique called Mendelian randomisation, which examines cause-and-effect relationships using genetic information.
Recent research has shown that there is an increased risk of developing diabetes for individuals with restless leg syndrome. It was previously believed that low iron levels in the blood might be linked to the development of this syndrome due to its impact on dopamine levels, but the study did not find strong genetic connections to iron metabolism. However, researchers acknowledge that they cannot entirely dismiss it as a potential risk factor.
Professor Juliane Winkelmann, one of the senior authors of the study from TUM, stated, “We have made a significant breakthrough by being able to predict the risk of developing restless leg syndrome. This achievement allows us to not only treat the condition, but also potentially prevent it.”The researchers observed symptoms of this condition in our patients.”
