Gene mutations may lead to MS preventative treatments

June 12, 2019
In a new study, researchers found mutations in 12 genes believed to be largely responsible for the onset of multiple sclerosis in families with multiple members diagnosed with the disease. The researchers hope the findings will one day lead to personalized treatments for MS patients and preventative strategies for those at greater risk of developing the disease.

For the study, an international team of researchers, led by the University of British Columbia, 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 percent 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 percent chance of developing MS in their lifetime.

The researchers hope to develop cellular and animal models with the identified mutations to mimic the biological processes responsible for the onset of MS in patients, with the goal of eventually developing preventative treatments for the disease.

The findings were published in PLOS Genetics.

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