- June 8, 2016
- Posted by: emobile
- Category: Researcher's Corner
Emobileclinic Researchers’ corner
One of the unpredictable central nervous system diseases is Multiple sclerosis. About 2.3 million people are affected globally. the cause of the diseases has remained topical in recent past as previous studies have suggested that genetic risk factors could increase the risk of developing the disease, there has not been any evidence that it is directly inherited, however, according to the new findings published in the Neuron Journal, the risk factor has been proven to be hereditary.
The researchers headed by Prof. Carles Vilarno-Guell, remarks that they have proven that multiple sclerosis(MS) can result from a single genetic mutation on a gene called NR1H3, which produces a protein that acts as an “on-off switch” for other genes. It was explained that other genes either work to stop myelin-damaging inflammation or create new myelin to repair the damage.
The researchers say their findings could help uncover therapies that either targets the NR1H3 gene or that neutralize the mutation’s effects. The researchers used blood samples taken from 4,400 people with MS and 8,600 blood relatives as part of a 20-year project funded by the MS Society of Canada and the Multiple Sclerosis Scientific Research Foundation.
It was discovered that the mutation in two Canadian families in which several members had a rapidly progressive type of the disease. In these families, two thirds of the people with the genetic mutation developed MS.
The researchers say that only 1 in 1,000 people with MS have this specific mutation. However, the finding uncovers the biological pathway that leads to the rapidly progressive form of MS, which accounts for 15 percent of people with the disease. “This mutation puts these people at the edge of a cliff,” says Prof. Vilarino-Guell, “but something has to give them the push to set the disease process in motion.”
He and his team say their discovery could improve understanding of the more common form of MS called “relapsing-remitting,” because it typically becomes more progressive. Following on from this study, the researchers say that screening for this particular mutation in individuals at risk for MS could facilitate earlier diagnosis and treatment before the onset of symptoms.
For example, if individuals with a family history of the disease carry the mutation, they could opt to increase their vitamin D intake; low levels of the vitamin have been linked to MS previously.