Genetic Cause of Multiple Sclerosis Identified

Researchers have identified a specific genetic mutation that may increase the likelihood of developing multiple sclerosis (MS), according to findings published in Neuron.

Researchers from the University of British Columbia and Vancouver Coastal Health found this genetic mutation in two Canadian families that had several members diagnosed with a rapidly progressing form of MS, a statement explained. Two-thirds of those families’ members developed MS, the authors said.

The researchers added that only about one in 1,000 MS patients seem to have this mutation; however, the discovery helps illuminate the cause for this rapidly progressing type of MS, estimated to be about 15 percent of all MS cases.

“If you have this gene, chances are you will develop MS and rapidly deteriorate,” study co-author Dr. Anthony Traboulsee, said in a press release. “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 researchers said that this finding should ease the minds of those who fear that MS is inherited, especially because, in the past, a combination and genetic variations was believed to be the cause of MS and increase susceptibility.

“This mutation puts these people at the edge of a cliff, but something still has to give them the push to set the disease process in motion,” senior author Carles Vilariño-Güell said in the statement.

The investigators reviewed 2,000 families in the studies to find the two that had the rapid form of MS and identified the mutation in a gene called NR1H3. It causes the loss of function in a gene product called the LXRA protein, which controls the regulation of genes for lipid homeostasis, inflammation, and innate immunity.

Mice models with this gene removed are known to have neurological problems, another statement continued. Before now, researchers did not have the ability to develop cellular and animal models for MS that were physiologically relevant to the human forms of the disease, and these findings are a significant step forward to doing that.

“These are still early days and there is a lot to test, but if we are able to repurpose some of these experimental drugs, it could shorten the time it takes to develop targeted MS treatments,” Vilariño-Güell said.