Study Moves Closer to Identifying Cause of Multiple Sclerosis


Investigators aim to develop cellular models to mimic the biological processes responsible for the onset of multiple sclerosis.

A study by the University of British Columbia made a scientific advance that researchers hope will lead to the development of preventative treatments for multiple sclerosis (MS). Published in PLOS Genetics, the study showed approximately 12 mutations believed to be largely responsible for the onset of MS in families with multiple members diagnosed with the disease.

Investigators sequenced all known genes in 3 or more patients with MS from 34 families and examined the genetic variance in family members both affected and unaffected by MS. By examining 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.

Only 13% of patients diagnosed with MS have the genetic form of the disease; however, those presenting the mutations have up to an estimated 85% chance of developing MS in their lifetime, according to the study.

The investigators seek to develop cellular and animal models with the identified mutations in order to mimic the biological processes responsible for the onset of MS. Their goal is to ultimately develop preventative treatments for the disease.

"We have treatments that address the symptoms of MS, but not the causes. People with MS take drugs that reduce the attacks, but the disease still progresses," said Carles Vilariño-Güell, assistant professor in the UBC faculty of medicine's department of medical genetics. "Now, with knowledge of these mutations, which suggest a common biological process that leads to increased inflammation in MS families, we can try to address the root causes."

The researchers hope the findings will eventually lead to personalized treatments for patients with MS and preventative strategies for those at greater risk of developing the disease.


Scientists edge closer to root causes of multiple sclerosis [news release]. ScienceDaily website. Published June 6, 2019. Accessed June 10, 2019.

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