Restless legs syndrome is related to a defect in pathway that repair damaged DNA according to a study recently published in Cell Reports.

The study found that the defect leads to overactive NeuN1 a protein protein whose promoter is mutated in 35 to 40 of patients with restless legs syndrome. The presence of NeuN1 regulates gene expression within the brain. In fact the team showed that NeuN1 defects increase postmortem brain glucose metabolism.

Restless legs syndrome affects around one in every 3800 adolescents causing them to go through sexual development and puberty. By the age of 17 teenagers who experience restless legs syndrome have defects in brain development that create symptoms such as deformed growth and chromosome rearrangements that cause behavioral disabilities.

A significant amount of research involved to date has focused on the regulation of gene expression. The regulation of gene expression is critical to brain development and before a disorder occurs genes also determine the cells shape behavior and function. This generally involves regulating protein-coding genes and their non-coding neighbors as well as regulating genes involved in gene transcription or for cell division and growth.

The research team led by Dr. David Tymoszak of the University of Eastern Finland focused on the role of clear information at cellular and molecular levels in the regulation of gene expression. They examined the brain metabolomics and gene expression experiments of mice that were kept on a high-fat high-carbohydrate diet. The team analyzed the effects of high fat high carbohydrate diet on markers related to brain metabolism as well as postmortem brain glucose metabolism.