The argument among scientists as to whether there are some inheritable gene mutations for multiple sclerosis may have just come to an end due to new data from a recent study published by researchers at the University of British Columbia and Vancouver Coastal Health.
Using exome sequencing, the researchers discovered a mutation in two Canadian families that had several members diagnosed with a rapidly progressive type of MS, a condition in which a person’s symptoms steadily worsen and for which there is no effective treatment.
In the two families described in this study, two-thirds of the people with the mutation developed 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,” remarked co-senior author Weihong Song, M.D., Ph.D., professor and research chair in Alzheimer’s Disease at UBC. “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,” Dr. Vilariño-Güell added.
“There is clear evidence to support that this mutation has consequences in terms of biological function and the defective LXRA protein leads to familial MS development,” Dr. Song noted.
“One thing that’s important to note is that although this mutation is present in only about 1 in 1000 people with MS, by doing association analysis we’ve also found common variants in the same gene that are risk factors for progressive MS,” Dr. Vilariño-Güell added.
These new findings could help in the search for therapies that act upon the gene itself or counteract the mutation’s disease-causing effects.