20:33 03 June 2016
Scientists from the University of British Columbia have identified a gene that causes a rare but inherited form of multiple sclerosis that affects about one in every thousand MS patients.
It has long been suspected that MS can be genetic but experts had thought there would be lots of genes involved as well as numerous environmental factors.
The research involved the DNA study of hundreds of families affected by the MS. The researchers found it in two sets of families containing several members with a rapidly progressive type of MS.
In these families, 70per cent of the people with the mutation in the gene called NR1H3 developed the disease. The gene is responsible for making a protein that acts as a switch in controlling inflammation. In MS, the body’s immune system mistakenly attacks the protective layer of myelin that surrounds the nerve fibers in the brain and spinal cord, leading to muscle weakness.
The findings are hoped to provide specific guidance in the development of targeted screening and therapy.
Researcher Dr Carles Vilarino-Guell said: "These are still early days and there is a lot to test, but if we are able to repurpose some of these experimental drugs, it could shorten the time it takes to develop targeted MS treatments."
Dr Sorrel Bickley from the MS Society added: "Whilst the gene variant identified was associated with rapidly progressing forms of MS in the two families studied, the variant itself is rare and most people with MS won't have it. This research does however give us an insight into how progressive forms of MS develop, which could help to inform the development of new treatments in the future."