A groundbreaking, massive genetic study was released this week that has identified more than 50 gene variants that may contribute to the autoimmune disease, 29 of which are new discoveries.
The study controlled in the United Kingdom included nearly 10,000 MS patients from 15 countries and more than 17,000 healthy controls. The research, a genome-wide analysis, was conducted by the International Multiple Sclerosis Genetics Consortium, a group made up of researchers from 129 institutions studying the genetics of MS.
The large sample size enabled researchers to identify more variants, called single nucleotide polymorphisms, than had been found in prior research, and about 50% of the variants are known to be involved in immune system function, and about one-third have been implicated in other autoimmune diseases, such as Crohn’s, celiac disease, rheumatoid arthritis, lupus and type 1 diabetes.
Knowing which genes play a role in MS may help new treatments to be developed, including the possibility that the commonalities between MS and other autoimmune diseases could mean that certain treatments already in use might work on more than one of the diseases.
Dr. Alastair Compston, a professor of neurology at University of Cambridge in England explains:
“When we look at the pathways, they are telling us loud and clear the earliest stages of this disease process involves some dysregulation of the immune system, particularly involving T lymphocytes. The general processes that go on in autoimmunity are shared. But why that common set of problems leads to diabetes in one and MS in another remains to be solved.”
Well what exactly are these T lymphocytes? They basically are immune cells that carry out surveillance against infections. In autoimmune diseases, it’s believed that the lymphocytes mistake body tissues as foreign and attack those.
Margaret Pericak-Vance, director of the John P. Hussman Institute for Human Genomics at the University of Miami Miller School of Medicine continues:
“MS is a complex disease. We know that. For a long time, we’ve known that genetics has played a role. But when we first started looking at the genetics, we thought it was going to be a simple answer. They identified HLA over 30 years ago as being involved in MS. Yet over time, we found out, it’s not that easy. MS is very heterogeneous. HLA doesn’t account for all of it, so we waited for technology to become available to learn more. This study absolutely gives the authority to press on with that particular strategy and to solve the problems around the safety and efficacy of these drugs.”
The fact that so many of the new genes identified are involved with immune system function, it should put to rest any lingering doubts that MS is indeed an autoimmune disease.
“Even though MS is different from lupus and other autoimmune diseases, because of the common genes, there are some basic mechanisms that are the same across these disorders. Understanding those basic mechanisms, plus what is different, may help in coming up with new therapies and new targets.”
Written by Sy Kraft