Gene Mutation Link To Multiple Sclerosis Identified

For the first time in the history of medical sciences, a team of researchers from the University of British Columbia (UBC), in Vancouver has discovered the gene mutation that leads to progressive development of multiple sclerosis (MS).

MS is a neurodegenerative disease that affects more than 2.3 million people around the world. In addition, this condition is often hard to diagnose. There is no targeted treatment for the condition so far since the researchers did not have an idea how the disease develops and progresses in the human body.

In MS, the immune system of the patient attacks the myelin sheath, which is a protective covering outside the nerve fibers. Thus, damage to the myelin sheath disrupts the to-and-from transfer of information between the body and the brain. Because of the known role of the immune system, the researchers never thought about whether genetics could also play a role in MS until recently.

During the study, the research team performed a genetic analysis of 2,000 families who participated in Canadian Collaborative Project on Genetic Susceptibility to MS database, which started in the year 1993. The team found that people who had the newly discovered genetic mutation were more likely to develop MS.

The researchers thus concluded that families who have strong occurrence of MS have one strong genetic component causing the disease. However, the team did confirm that a majority of MS patients have the disease because of a combination of environmental and genetic factors.

The recent discovery of the gene mutation linked to the discovery of the disease is expected to help with correct diagnosis and timely intervention for people who suffer from this debilitating condition. In addition, researchers are expected to work on new therapies that can either attack on the gene or reverse the effects caused by its mutation.

The complete details of the study have been published in the journal Neuron.