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Gen NR1H3: Genetic cause of multiple sclerosis discovered

Gen NR1H3: Genetic cause of multiple sclerosis discovered


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Genetic mutation triggers the disease in the majority of its carriers
Canadian researchers from the University of British Columbia (UBC) and Vancouver Coastal Health may have made a medical breakthrough. For the first time, the scientists have identified a gene mutation that could lead to the development of multiple sclerosis (MS). As the experts in the specialist magazine "Neuron" report, 70 percent of carriers of this mutation would develop MS. From the researchers' perspective, 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 those affected particularly often experience emotional disturbances (numbness, "walking with ants", etc.), visual disturbances and muscle paralysis at the beginning. MS affects more than two million people worldwide and is more than twice as common in women than in men.

Specific mechanisms of origin not yet known
The mechanisms by which MS is triggered have not yet been clarified. However, experts suspect 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: BBB) could play an important role. It is also assumed that multiple sclerosis has a genetic background in addition to environmental influences.

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

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

Mutation alone is not enough
According to the scientists, the discovery could indicate that inheritance is possible at least in certain forms of MS. But the mutation is not enough, according to the report, for the disease to break out. The carriers would have an increased susceptibility to the disease, but further risk factors would have to be added. "The mutation pushes these people to the brink of an abyss," the study’s senior author, Carles Vilariño-Güell, said in a statement from the University of British Columbia. "Something has to be added that gives them the push that then starts the disease process."

According to the researchers, the new discovery could help to better understand the origin of MS, even if only about one in 1000 MS patients is affected by this gene variant. "Because little is known about the biological process that leads to the onset of this disease," continued Vilariño-Güell. (No)

Author and source information



Video: Is MS Hereditary Whats my kids risk of Multiple Sclerosis (June 2022).


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