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Study finds genetic link to progressive form of MS

6/1/2016

A new study shows that a gene mutation can be connected directly to the development of multiple sclerosis. Researchers have proven that a single genetic mutation is a strong contributing factor to MS – a rare alteration in DNA that makes it very likely a person will develop the more devastating form of the neurological disease.

Scientists at the University of British Columbia and Vancouver Coastal Health found the mutation in two Canadian families that had several members diagnosed with a rapidly progressive type of MS. In the study, the investigators reviewed materials from the Canadian Collaborative Project on Genetic Susceptibility to MS, a large database that contains genetic material from almost 2,000 families across Canada. They looked at a family that had multiple cases of the disease – five cases over two generations – and did exome sequencing to look for rare coding mutations that were present in all family members who had the disease. After identifying a gene of interest, they went back to the database and found the same mutation in another family with multiple cases of MS. Interestingly, all patients in these families with the mutation had the progressive form of MS.

About 10 to 15 percent of MS cases appear to have a hereditary component, but until now researchers conducting genetic studies have found only weak associations between the risk of developing MS and particular gene variants. In contrast, the team determined people who carry the newly discovered mutation have a 70 percent chance of developing the disease.

Although only one in 1,000 MS patients appear to have this mutation, its discovery helps reveal the biological pathway that leads to the rapidly progressive form of the disease, accounting for about 15 percent of people with MS. The discovery could also provide insight into the more common, fluctuating form of MS, known as "relapsing-remitting," because in most cases, that disease gradually becomes progressive

The results were published in the journal Neuron.



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