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This Multiple Sclerosis Gene Could Inspire New Therapies

June 8, 2016

There is a newly discovered genetic mutation that gives those carrying it a 70 percent chance of developing multiple sclerosis. This means it could potentially open the way toward new therapies for the disease.

The mutation was found in only two families and 11 people, seven who have MS, therefore outsiders were skeptical that the mutation is in fact involved with the disease. Dr. Nikolaos Patsopoulos, neurologist and MS geneticist at Brigham and Women’s Hospital in Boston said he would be very surprised if this turns out to be true.

The mutation that was reported by scientists in Canada is ‘unusual for its power’. When Dr. Dessa Sadovnick, medical geneticist of the University of British Colombia, said she was pursuing genetic causes of MS, people thought she was out of her mind. Many experts dismissed all of the people she found that said the disease ran in their family due to the fact that these relatives are all being exposed to the same environmental factors.

Sadovnick found 25 families out of the DNA she collected from 4,400 patients and 8,600 relatives with the funding she was given from the MS Society of Canada. After pulling the patients’ DNA samples and sequencing the genes the rare mutation was found that confers a 70 percent risk of developing MS.

The role the mutation plays in MS is said to become clearer with studies of mice that are genetically engineered to carry the risk-increasing mutation. The UBC team plans to conduct this in a few weeks which will allow for a better understanding of what pathways are important in MS.

As drugs are being developed to target this gene, Carles Vilariño-Güell, a senior author of the new study says, “Now there is real hope for stopping this disease.”
https://www.statnews.com/2016/06/01/multiple-sclerosis-gene/?linkId=25190829