Gene mutation underpinning multiple sclerosis discovered

A gene mutation that can be connected directly to the development of multiple sclerosis (MS) has been discovered for the first time.

The University of British Columbia research examined a large database of genetic material from almost 2,000 families across Canada, before focusing on a family with five cases of MS over two generations, performing exome sequencing to find coding mutations present in all those affected.

After identifying a gene of interest, they went back to the database and found the same mutation in another family with multiple cases of MS. All patients in these families with the mutation presented with the progressive form of disease.

This could potentially make it possible to develop cellular and animal models for MS that are physiologically relevant to human disease, allowing scientists to study underlying disease mechanisms, as well as to create therapies that target its genetic basis.

Carles Vilarino-Guell, an assistant professor for the department of medical genetics at the University of British Columbia, said: "Little is known about the biological processes that lead to the onset of the disease, and this discovery has massive amounts of potential for developing new treatments that tackle the underlying causes, not just the symptoms."