Melbourne team uncovers multiple sclerosis breakthrough - Herald Sun

MELBOURNE scientists say they have made a major breakthrough in unravelling the cause of multiple sclerosis, by identifying 48 previously unknown genetic variants that influence the risk of developing the incurable auto-immune disease.

The findings from this international research program almost double the number of known genetic risk factors for the disease affecting 23,000 Australians, and bring researchers a step closer to developing the first curative treatments.

Head of the MS division at Florey Institute of Neuroscience and Mental Health, Professor Trevor Kilpatrick said the ability of 84 research groups in 13 countries to pool their expertise and data sets over the past decade had found that about a fifth of the MS genes linked to disease susceptibility, were linked to other auto-immune diseases such as coelic disease, rheumatoid arthritis and thyroid disease.

“That’s telling us there are some common drivers between these various diseases and that’s going to be really important in understanding what are the common things that go wrong at the molecular level,’’ Prof Kilpatrick said.

“It will impact how we intervene across the board in other auto-immune disease.’’

MS occurs when the body’s immune system destroys the outer protective layer of nerves, which can affect the ability to walk or speak clearly.

The research was published in the journal Nature Genetics today by the International Multiple Sclerosis Genetics Consortium, of which Florey Institute of Neuroscience and Mental Health, University of Melbourne and Monash University are involved.

They analysed the DNA of about 80,000 people, including Australians, to make this the largest investigation of MS genetics.

Prof Kilpatrick said this international research group would now investigate whether there were “genetic signatures’’ that dictate severity of the disease.

“We are very much aware that all of us get a set of susceptibility genes, more or less, and there is something in the environment may trigger that into avert disease,’’ he said.

“But we’re not going to get to the stage whereby we can predict that someone on their genetic repertoire alone will be destined to get the disease.

“We think, however, that there may be genetic signatures which will determine whether an individual will get severe disease as opposed to a benign form.

“If you can say your genetic signature is very heavy, we can intervene early with treatment.’’

MS Research Australia chief Dr Matthew Miles said the findings were as ``huge contribution’’ to the understanding of MS.

“This work will underpin intensified efforts to translate these genetic findings into new therapies to reduce the impact of this condition for people with MS worldwide,’’ Dr Miles said.