Genetic mutation can cause multiple sclerosis, say scientists

Multiple sclerosis is known to run in certain families, but attempts to find genes linked to the disease have been elusive.

Updated: Jun 02, 2016, 09:26 AM IST

Zee Media Bureau

New Delhi: Scientists have for the first time found a gene that can be linked directly to the development of multiple sclerosis (MS).

Multiple sclerosis is known to run in certain families, but attempts to find genes linked to the disease have been elusive.

While about 10% to 15% of MS cases appear to have a hereditary component, until now researchers conducting genetic studies have found only weak associations between the risk of developing MS and particular gene variants.

In the current study, researchers at the University of British Columbia (UBC) studied the DNA of hundreds of families affected by the disease.

The researchers found the mutation in two Canadian families that had several members diagnosed with a rapidly progressive type of MS.

They found that people who carry the newly discovered mutation have a 70% chance of developing the disease.

"The mutation we found, in a gene called NR1H3, is a missense mutation that causes loss of function of its gene product, LXRA protein," says neuroscientist Weihong Song, Canada Research Chair in Alzheimer's Disease at UBC and the study's other senior author.

"If you have this gene, chances are you will develop MS and rapidly deteriorate," added co-author Dr Anthony Traboulsee, the MS Society of Canada Research Chair at UBC.

MS is a neurodegenerative disease in which the immune system attacks the myelin that protects nerve fibers, upsetting the flow of information between the brain and the body. It affects about 2 million people worldwide, and in its more severe, progressive form, no good treatments are available.

The discovery provides a massive amounts of potential for developing new treatments that tackle the underlying causes, and not just the symptoms.

The finding has been published in the journal Neuron.