Medical Breakthrough Doctors Discover Genetic Cause of Multiple Sclerosis

Gene mutation is the cause of the disease in most of its carriers
New hope in the fight against the autoimmune disease Multiple sclerosis: Canadian scientists have for the first time been able to identify a gene mutation that can lead to the development of a chronic inflammatory disease. Those who carry this mutation in themselves, 70 percent of MS, the researchers currently report in the journal "Neuron". The discovery of the University of British Columbia (UBC) and Vancouver Coastal Health experts may be a breakthrough in the development of new therapies.

Illness has many different faces
Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system (brain and spinal cord), which, because of its multiple manifestations, is also referred to as "a thousand-faced disease". There are no definite signs or a typical course, but especially often sufferers experience emotional disorders (such as numbness or "running ants"), impaired vision and paralysis of the muscles at the beginning of the illness. MS affects more than two million people worldwide and is more than twice as likely to affect women than men.

Researchers have discovered a specific gene mutation that can cause MS in some circumstances. (Image: ymgerman / fotolia.com)

Children of those affected have a significantly higher risk
Little is known about the biological mechanisms that cause the genesis of MS. 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. Because like the German Multiple Sclerosis Society, Bundesverband e. V. informs that a child of a person affected has a 30% increased risk of developing MS in the course of his life compared with the total population. But heredity is very complex and so far poorly understood, because the previously discovered gene variants could explain the increased risk of those affected only partially.

Samples from large database evaluated
However, a team of researchers from the University of British Columbia (UBC) and Vancouver Coastal Health could 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 focused on a family that had five cases within two generations - all of which involved women. When analyzing the genome of those affected, they discovered a specific mutation in the NR1H3 gene, which they subsequently detected in two affected persons from another family. "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." LXRA is a regulatory protein that normally activates anti-inflammatory, immunoregulatory and myelin-protective genes with the other members of the same family.

Mutation alone does not lead to the outbreak
Accordingly, mice lacking this gene would have neurological problems, including a decrease in myelin production: "There is clear evidence that this mutation has consequences in terms of biological function and that the defective LXRa protein leads to the development of familial MS leads, "Song continues. 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," Vilariño-Güell is quoted 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."

High potential for the development of new therapies
Even if only about one in 1,000 MS patients were affected by this gene variant, the new discovery could help researchers to elucidate the biological mechanisms involved in the development of MS. In addition, the scientists had discovered other, more common variants in the same gene, which increase the risk of disease for progressive MS - but in a weaker form. "Even if patients do not have the rare mutation, therapies that target this mechanism could probably help them," said senior author Carles Vilariño-Güell of the University of British Columbia (UBC)..

"If you have this gene, there is a risk that you will develop MS and the disease will quickly worsen," said co-author Dr. Anthony Traboulsee according to the UBC release. "This could open us up to a critical, early window of opportunity to focus everything on the disease, to try to stop it or slow it down. So far, we have had little foundation to do that, "the expert continued. (No)