MIAMI: For the first time, researchers have identified a gene mutation that’s directly linked with the development of multiple sclerosis (MS), a difficult-to-diagnose neurodegenerative disease that affects about 2.3 million people worldwide. Those findings may enable earlier diagnosis and intervention, as well as aid the search for therapies that act upon the gene itself or counteract the mutation’s disease-causing effects.
“Genes are like lighthouses to tell you what you should be looking at, what is causing the disease,” study senior author Carles Vilariño-Güell, an assistant medical genetics professor at the University of British Columbia (UBC), in Vancouver, said. “A lot of treatments are for clinical symptoms and don’t tackle the underlying biology of the disease because we don’t know a lot about how disease develops. Knowing the genes highlights a previous state before clinical symptoms, I think that’s really critical— the tools they provide for analysis are unbelievable.”
Multiple sclerosis results from the immune system’s attack on the myelin that protects nerve fibers, disrupting the flow of information between the brain and the body. Previous research has identified only weak associations between genetics and MS, but about 10 to 15 percent of cases appear to have a hereditary component. MS has no cure, and treatment usually focuses on recovery and management…