Double helix

Rare genetic mutation possibly associated with rapidly progressive form of MS

This article was updated on 7 July 2016 in the light of new research

Research published in the journal Neuron has identified a gene associated with the development of progressive MS.

Researchers from Canada found a particular difference in this gene (otherwise known as a gene variant or mutation) was associated with an increased risk of developing rapidly progressive forms of MS. However, the claim is being disputed by other researchers who believe the finding to be a conicidence and not indicative of inheritable MS.

Rare genetic mutation

The gene variant was identified in a study involving two Canadian families, both of which have multiple members with MS.

However, having this mutation is not enough to cause MS. The study found nearly a third of the people who had this variant did not have MS, suggesting other genes or environmental factors are also important.

Researchers also noted the variant found in these families is so rare most people with MS will not have it. They estimate only one in a thousand people with MS have the gene variant in question. In contrast, a follow up study looking at a much larger database of people with MS found no evidence that this variant was associated with MS. This report suggest that the original study was too small and has given a "false positive" result.

What does this mean for people with MS?

As this variant is so rare, it is not involved in most people’s risk of developing MS. These studies do however help our overall understanding of how progressive MS develops.

The genes studied here are normally thought to be involved in reducing damage to myelin and may also help to promote myelin repair.

Understanding more about these processes could help to inform the development of new treatments for MS.

Understanding risk factors

Dr Sorrel Bickley, our Head of Biomedical Research, said:

“More than 100,000 people are living with multiple sclerosis in the UK, and we know it’s likely to be caused by a combination of genetics and environmental factors.

“That means understanding how genes influence a person’s risk of developing MS is a really important area of research.

“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.”

Understanding MS is critical to developing new treatments and stopping MS.