Canadian Researchers Uncover Rare Gene that Increases Risk of Progressive MS

Researchers at the University of British Columbia have uncovered a rare gene mutation that appears to dramatically increase the risk, in some individuals, of developing a severe form of progressive multiple sclerosis. While the cause of MS is not known, scientists believe several different factors, including susceptibility genes, may interact to trigger the disease. The gene was discovered in two unrelated families that had multiple members with MS. The researchers also determined that the gene (NR1H3) contains instructions for a protein called LXRA, which is thought to be a control switch for genes involved in many functions, including some that help control inflammation and integrity of nerve-insulating myelin in the brain and spinal cord. This type of discovery can provide crucial clues to biological pathways that underlie MS, and may lead to new approaches for stopping MS and restoring function. The study, by Drs. Carles Vilariño-Güell, Weihong Song, A. Dessa Sadovnick and others, was funded in part by the MS Society of Canada and appeared in the journal Neuron on June 1, 2016.

Scientists fault gene mutation for inflammation

A new mouse model study has identified a faulty "brake" within immune cells, one that should control inflammation, and points to a potential target for developing new therapies to treat multiple sclerosis. The results suggest new research models of multiple sclerosis symptoms such as movement disorders and balance control problems.

A mutation in the gene Nlrp12 was causing a malfunction in T cells. Normally, the protein the gene produces acts as a brake within T cells to control the inflammatory response. But a mutation in that gene disrupts the natural process and provokes severe inflammation. The resulting inflammation produced MS symptoms such as movement disorders and problems with balance control.

Results of mouse model studies sometimes do not translate to humans and may be years away from being a marketable treatment. However, according to researcher John Lukens, Ph.D., of the University of Virginia School of Medicine, "It's important to note that MS is a spectrum disorder - some patients present with paralyzing conditions and some patients don't. Not everybody's symptoms are the same, so this might give us a glimpse into the etiology or pathogenesis of that family of MS."