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BWH’s David Hafler, MD, and his team have identified two genes that may contribute to multiple sclerosis (MS), a disease that affects about 300,000 people in the U.S.
This study, which appears in the July 29 online edition of the New England Journal of Medicine, confirmed that immune system genes are altered in people diagnosed with MS and pointed to potential mechanisms of the disease.
“Scientists are increasingly finding genetic links between autoimmune diseases that affect different tissues in the body, including lupus and rheumatoid arthritis,” said Hafler. “This study will likely spur further research into the connection between these seemingly separate conditions.”
MS is a disease of the central nervous system with symptoms that range from mild muscle weakness to partial or complete paralysis. It is considered an autoimmune disease because the body turns on itself, attacking and destroying the insulation along nerve fibers. The reason why this happens has been a mystery.
One of the genes Hafler’s group found is called the IL-2 receptor, which has also been linked to two other autoimmune diseases, type 1 diabetes and autoimmune thyroid disease. The other gene is the IL-7 receptor, which helps control the activity of a class of immune cells called regulatory T-cells.
Scientists believe that complex diseases like MS, diabetes and coronary artery disease are caused not by a mutation in a single gene, but by a combination of genetic, behavioral and environmental factors.
“In MS, each gene contributes only a small amount of risk,” Hafler said. “The big question is, how do they interact with each other, and are they in common pathways?”
If so, scientists may be able to pinpoint the underlying cause of the disease and, in turn, guide the development of new drugs to treat MS.
“This is just the beginning,” said Stephen Hauser, professor of Neurology at University of California San Francisco, who is another author of the study. Hauser and Hafler were among the original physicians at BWH under Howard Weiner in what was to become the Partners MS Clinic.
The study authors participated in an international consortium to pool resources and conduct an exhaustive search for MS risk factors. The group also collaborated with Eric Lander of the Broad Institute, who led the effort to sequence the human genome.