Scientists are zeroing in on mutations in a few genes that appear to be major risk factors for developing multiple sclerosis (MS). The results of their research suggest there are common biological pathways that cause the disease.
The study, “Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease,” was published in the journal PLOS Genetics.
Only about 13% of people diagnosed with MS have a close biological relative also diagnosed with the disease. In these cases, the likelihood of developing MS often is influenced significantly by one, or only a few, mutations that run in the family.
In the study, a team led by researchers at The University of British Columbia, Canada, analyzed 34 families of European descent with a family history of MS. The team looked for mutations in 132 MS patients, as well as non-affected relatives, using whole-exome sequencing — a technology that sequences only the part of the genome that actually generates proteins (called the exome).
By determining which genetic mutations were more likely to be present in individuals with MS, but not in unaffected individuals, researchers were able to identify 12 mutations tied to a greater likelihood of developing MS.