Genetics study points to potential treatments for restless leg syndrome

6 June 2024

Scientists - including members of a research collaboration overseen by NHS Blood and Transplant - have discovered genetic clues to the cause of restless leg syndrome, a condition common among older adults.

Restless leg syndrome can cause an unpleasant crawling sensation in the legs and an overwhelming urge to move them.

To explore the condition further, an international team led by researchers at the Helmholtz Munich Institute of Neurogenomics, Institute of Human Genetics of the Technical University of Munich (TUM) and the University of Cambridge compared the DNA of patients and healthy controls to look for differences more commonly found in those with restless leg syndrome.

The dataset included the INTERVAL study of England’s blood donors in collaboration with NHS Blood and Transplant.

Results of the study

The team identified over 140 new genetic risk loci, increasing the number known eight-fold to 164, including three on the X chromosome. The researchers found no strong genetic differences between men and women, despite the condition being twice as common in women as it is men – this suggests that a complex interaction of genetics and the environment (including hormones) may explain the gender differences we observe in real life.

Although low levels of iron in the blood are thought to trigger restless leg syndrome – because they can lead to a fall in the neurotransmitter dopamine – the researchers did not find strong genetic links to iron metabolism. However, they say they cannot completely rule it out as a risk factor.

You can access the published results of the study at Nature Genetics.