Scientists at the University of British Columbia and Vancouver Coastal Health have proven that multiple sclerosis (MS) can be caused by a single genetic mutation – a rare alteration in DNA that makes it very likely a person will develop the more devastating form of the neurological disease.

Discovering the mutation

The mutation was found in two Canadian families that had several members diagnosed with a rapidly progressive type of MS, in which a person’s symptoms steadily worsen and for which there is no effective treatment.

Although only one in 1,000 MS patients appears 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 per cent 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.

What it means

“If you have this gene, chances are you will develop MS and rapidly deteriorate,” said co-author Dr. Anthony Traboulsee, the MS Society of Canada Research Chair at UBC and Director of Vancouver Coastal Health’s MS and Neuromyelitis Optica Clinic. “This could give us a critical early window of opportunity to throw everything at the disease, to try to stop it or slow it. Until now, we didn’t have much basis for doing that.”

The findings, published today in the journal Neuron, could help in the search for therapies that act upon the gene itself or counteract the mutation’s disease-causing effects. More immediately, screening for the mutation in high-risk individuals could enable earlier diagnosis and treatment before symptoms appear.

Learn more

Visit the UBC website for background on MS and video about this discovery.