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New Risk Genes Associated With MS Have Been Discovered

June 21, 2016

Four new risk genes associated in German patients with MS have been identified by scientists at the Technical University of Munich (TUM) and the Max Planck Institute of Psychiatry. The results found point to a possible involvement of cellular mechanisms in the development of the disease where environmental influences have an effect on gene regulation.

Director of the Clinic and Policlinic at TUM, Dr. Bernhard Hemmer, explains that all four genes are extremely important for regulatory processes within immune cells. “Interestingly, they are linked to epigenetic mechanisms. These are bookmarks in the genome that are placed by environmental influences and control the expression of genes.”

While there are approximately 20,000 genes inside a cell, the epigenetic signals (which are programed by environmental influences throughout one’s lifetime) mark DNA sequences in these cells which are critical for regulating which of the genes get activated. SHMT1 is a gene that plays a central role in DNA methylation, which is one of the most important epigenetic regulatory mechanisms.

Professor Dr. Bertram Muller-Myhsok, Research Group Leader, said, “Because the hereditary component in developing MS is limited, environmental factors strongly contribute to the disease. They can influence the activity of MS-relevant genes via epigenetic mechanisms. We have now discovered indicators for regulation of methylation being a potential interface where genetic and environmental MS risk factors interact.”

Along with the discovery of four new risk genes within the German population, the scientists also confirmed the existence of a dozen previously identified genes. The scientists ended up focusing on a single population of homogeneous German patients instead of examining a vast amount of international samples from different ethnic groups which lead for discovery of risk genes that had not been discovered in international studies. This is the largest genetic MS study that has been carried out in a single country with just under 5,000 patients and a sample of over 10,000 healthy people.