An international team of researchers led by the University of British Columbia scientists has made a scientific advance they hope will lead to the development of preventative treatments for multiple sclerosis (MS). In a study published online on June 6, 2019 in PLOS Genetics, researchers found mutations in 12 genes believed to be largely responsible for the onset of MS in families with multiple members diagnosed with the disease. The open-access article is titled “Exome Sequencing in Multiple Sclerosis Families Identifies 12 Candidate Genes and Nominates Biological Pathways for the Genesis ff Disease.” "These genes are like a lighthouse illuminating where the root cause of MS is," said lead author Carles Vilariño-Güell, PhD, Assistant Professor in the UBC Faculty of Medicine's Department of Medical Genetics and a Michael Smith Scholar. MS is a disease that affects the central nervous system, in which cells from the immune system attack and damage the nerve cells' protective myelin sheath (see larger image at end). The disease often results in disability and can have a significant impact on quality of life. For this study, researchers sequenced all known genes in three or more MS patients from 34 families and examined the genetic variants in family members both affected by and unaffected by MS. By looking at the genes of 132 patients, they identified 12 genetic mutations that can lead to an overactive autoimmune system that attacks myelin, the insulating layer around nerves in the brain and spinal cord. Of people diagnosed with MS, only 13 per cent are believed to have a genetic form of the disease, but those presenting the mutations identified in this new study were estimated to have an up to 85 per cent chance of developing MS in their lifetime.
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