Gen NR1H3 Genetic cause of multiple sclerosis discovered

Gene mutation is responsible for the majority of its carriers
Canadian researchers at the University of British Columbia (UBC) and Vancouver Coastal Health may have made a medical breakthrough. The scientists have for the first time identified a gene mutation that could lead to the development of multiple sclerosis (MS). As the experts in the journal "Neuron" report, 70 percent of the carriers of this mutation would develop MS. From the researchers' point of view, the discovery could help to develop new therapies for those affected.

More than two million people affected worldwide
Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system (brain and spinal cord). There are no specific signs or a typical course, but most often suffer from emotional disturbances (numbness, "running ants", etc.), impaired vision and paralysis of the muscles. MS affects more than two million people worldwide and is more than twice as likely to affect women than men.

Advances in medicine: Canadian scientists have identified a gene mutation that can potentially lead to multiple sclerosis. (Image: Minerva Studio / fotolia.com)

Concrete origins are not yet known
Which mechanisms trigger MS exactly is not yet clear. Experts suspect, however, that among other things, the intestinal flora and the permeability of the barrier between the central nervous system and the blood ("blood-brain barrier", in short: BHS) could play an important role. It is also assumed that in multiple sclerosis, in addition to environmental influences, there is also a genetic background.

Researchers identify abnormalities in two families
In this context, however, a team of researchers from the University of British Columbia (UBC) and Vancouver Coastal Health could now have achieved a medical breakthrough. The scientists had evaluated a database of genetic information for almost 2000 Canadian families in which the disease had occurred for their project. They were able to detect a specific mutation in the gene NR1H3 in two Canadian families, each with several cases of MS. Accordingly, two-thirds of the members carrying this mutation developed the disease.

"The missense mutation found in the NR1H3 gene causes a loss of function in its product, the LXRA protein," said Weihong Song of the University of British Columbia in a press release by the publisher "Cell Press." However, LXRA is a regulatory protein that normally activates anti-inflammatory, immunoregulatory and myelin-protective genes.

Mutation alone is not enough
According to the scientists, the discovery may indicate that inheritance is possible, at least in certain forms of MS. But according to the report, the mutation alone is not enough for the disease to break out. Although the carriers have an increased susceptibility to the disease, it must be added to other risk factors. "The mutation pushes these people to the brink of an abyss," the study's senior author Carles Vilariño-Güell quotes in a statement from the University of British Columbia. "Something has to be added that gives them the nudge that sets the disease process going."

Even if only about one in every 1,000 MS patients was affected by this gene variant, the new discovery could contribute to a better understanding of how MS develops, according to the researchers. "Because there is little known about the biological process that leads to the outbreak of this disease," continues Vilariño-Güell. (No)