Scientists Discover Four New Risk Genes Linked with Multiple Sclerosis

A new German study has identified four new risk genes that are altered in patients with Multiple Sclerosis. The study, published in the journal Science Advances, suggests that cellular mechanisms might be involved in the development of the disease.

The four genes associated with the development of Multiple Sclerosis include L3MBTL3, MAZ, ERG, and SHMT1.

"All four genes are 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", explained Prof. Dr. Bernhard Hemmer, Director of the Clinic and Policlinic for Neurology at TUM's Klinikum rechts der Isar and Spokesman of the Executive Board of the KKNMS, in a statement.

The gene SHMT1 plays a crucial role in the regulation of methylation homeostasis, which is important for establishment and maintenance of epigenetic signatures. On the other hand L3MBTL3, MAZ and ERG play important roles in immune cell regulation.

Researchers believe that environmental factors strongly contribute to the development of the disease by influencing genes relevant to Multiple Sclerosis through epigenetic mechanisms. The four genes can serve as indicator for regulation of methylation being a potential interface where genetic and environmental MS risk factors interact.

For the study, the researchers enrolled 4,888 patients with Multiple Sclerosis and 10,395 healthy individuals to serve as their control group. All the patients are German, which opposed previous studies examining large number of international samples from different ethnic groups, in order for them to identify risk genes that are not yet discovered in precious international studies.

According to the data from National Multiple Sclerosis Society, more than 2.3 million people in the world are suffering from Multiple Sclerosis. At present, there is no definite cure for Multiple Sclerosis. However, there are FDA-approved medications that can reduce the number of relapses and delay the progression of the disease.