New research has identified three genes and their expressed proteins that may be involved in the development of multiple sclerosis. According to researchers, the findings provide promising targets for future therapy research.

By comparing information on the genes and proteins expressed in the brains of thousands of individuals with and without MS, investigators discovered different expression levels of the SHMT1, FAM120B, and ICA1L genes, and their proteins, in brain tissues of patients versus controls. Studying the functions of these genes may uncover new information on the mechanisms involved in the development and progression of MS. 

The study’s authors said more studies are needed to discover the underlying mechanism of abnormal changes in these proteins and their related pathways in MS. Meanwhile, the results also prioritized unique protein biomarkers and potential therapeutic targets that could aid in MS diagnosis and advance the development of new intervention.

According to Dr. Ben Thrower, MS Focus senior medical advisor, “MS results from the complex interaction of genetics and the environment. While MS has some genetic basis, it is not a strongly hereditary disease. If you have a first degree relative with MS (parent, child, or sibling), you risk of developing MS is about 2.5-3 percent. If an identical twin has his, the other twin has a 33 percent chance of developing MS. Over 200 genes have been identified that play a role in the risk for developing MS and we can now add three more. 

“Researchers looked at the brains of many people with MS and found three genes in people with MS that were not found in the control group. The next question will be what the purpose of those genes is. Do they contribute to the immune dysregulation that defines MS? Do they prevent repair in the central nervous system. The answers to these questions could lead to improvements in the diagnosis, prognostication or management of MS. While researchers work to unravel the genetic mysteries of MS, others are focusing on the environmental risk factors that interact with genes to result in MS. This past year has seen big breakthroughs on that front as well. Two studies this year furthered our understanding of the role that Epstein Barr virus plays in MS.”

The findings were published in the Annals of Clinical and Translational Neurology.