Researchers identify genetic marker for multiple sclerosis severity

Multiple sclerosis occurs when the body's immune system mistakenly attacks and damages fatty material - called myelin - around the nerves, resulting in a range of symptoms that can include a loss of motor function, loss of sensation, pain, vision changes and changes to thinking and memory.

The breakthrough findings from the study point to a genetic variant that increases the diseases' severity and provided progress in understanding and eventually fighting MS.

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Study co-author from Menzies Bruce Taylor said the paper contained data from some 250 Tasmanians with MS, which had been collected over the last 13 years.

"For this project there was a specific need for not only data from people living with MS, but also for carefully conducted measures of disability," Dr Taylor said.

"This allowed us to determine which genes were associated with the risk of progression."

The study was an international collaboration from over 70 institutions, led by researchers from Menzies, the University of Cambridge and the University of California San Francisco (UCSF).

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Co-senior author of the study Sergio Baranzini from UCSF said inheriting the genetic variant from both parents accelerated the time to needing a walking aid by almost four years.

"Previous studies have shown that MS susceptibility, or risk, stems in large part from dysfunction in the immune system, and some of this dysfunction can be treated, slowing down the disease," Dr Baranzini said.

"But these risk factors don't explain why, 10 years after diagnosis, some MS patients are in wheelchairs, while others continue to run marathons."

After sifting through more than seven million genetic variants, the scientists found one that was associated with faster disease progression.

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The variant sits between two genes - one that's involved in repairing damaged cells, the other that helps to control viral infections - with no prior connection to MS.

To confirm their findings, the scientists investigated the genetics of nearly 10,000 additional MS patients, and found those with two copies of the variant became disabled faster.

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