Multiple Sclerosis
Matoula Kastrioti, 46, who suffers from multiple sclerosis, enters the sea with a "Seatrac", a solar-powered device that allows people with kinetic disabilities to enter and get out of the sea autonomously, at a beach in Alepochori, west of Athens July 12, 2013. Reuters/Yorgos Karahalis

A person has high chances of developing the condition multiple sclerosis (MS) if he has a single genetic mutation. Scientists from the University of British Columbia and Vancouver Coastal Health found the mutation, a rare alteration in DNA, in two Canadian families.

Several members of the two families were diagnosed with the rapidly progressive type of multiple sclerosis. The discovery would finally settle the issue if some forms of the ailment are inherited. The prevailing belief is that combining different genetic variations result in a slight increase in susceptibility to MS.

Researchers estimate that only one in 1,000 MS patients have the mutation. The study, published on Thursday in the Neuron journal, helps reveal the biological pathway which could lead to the rapidly progressive form of the disease and provide insight into the more common, fluctuating form of MS.

Carles Villlarino-Gruell, senior author of the study and assistant professor of medical genetics, explains, “This mutation puts these people at the edge of a cliff, but something still as to give them the push to set the disease process in motion,” quotes Biosciencetechnology.

Co-author Dr Anthony Traboulsee, research chair of the MS Society of Canada at the university, says people with the gene mutation would have high chances of developing MS and rapidly deteriorate. He adds, “This could give us a critical early window of opportunity to throw everything at the disease, to try to stop it or slow it. Until now, we didn’t have much basis for doing that.”

Besides helping in the search for therapies that act upon the gene or counteract the disease-causing effect of the mutation, the research could enable earlier diagnosis and treatment before the symptoms appear by screening for the mutation in high-risk individuals.

When the body’s immune system attacks myelin, the fatty material which insulates neurons and enables rapid transmission of electrical signals, it results in MS. Damaged myelin disrupts the communication between the brain and other parts of the body which leads to eye problems, weakness of muscles, difficulty with balance and coordination and cognitive impairments.

In Australia, the Australian Bureau of Statistics, in 2012, estimated there are about 23,700 Australians living with MS. The cost to individuals and the country is placed at over $1 billion.