In one of the largest human genetic studies ever undertaken, scientists have identified the major common genetic variants contributing to the neurologic disease, Multiple Sclerosis (MS).
The research represents years of work by the International Multiple Sclerosis Genetics Consortium (IMSGC) involving more than 250 researchers in 15 countries. Australian scientists have played a significant role, with 16 contributing to the work, and more than 1,000 Australians with MS contributing DNA samples.
The study confirmed the presence of up to 57 MS gene variants with a remarkable pattern that shows that the reason some people get MS and others don’t is largely due to subtle, inherited differences in immune function. It points to a pivotal role for T cells – the ‘orchestra leaders’ of the immune system and makes it clear that MS is primarily an immunologic disease.
Professor Graeme Stewart, a Clinical Immunologist in the Westmead Millennium Institute at the University of Sydney, led the Australian and New Zealand contribution, called ANZgene.
“Discovering so many new leads is an enormous step towards understanding the cause of MS,” Professor Stewart says. “Most importantly, for people with MS, these genes also strengthen the case for immunologic treatments currently in clinical trials and point to new therapeutic approaches.”
The executive director of MS Research Australia, Jeremy Wright, says the research provides people with MS greater hope for improved treatments and ultimately a cure.
He says the breakthroughs provide much greater intelligence about MS.
“It confirms current treatments are on the right track. MS can cause debilitating problems by turning the body’s immune systems on itself and attacking nerves in the brain and the central nervous system.
“This research shows that it’s not just one, or a few dominate genes, that influence MS, but 57 gene variants with many associated with the functioning of the immune system.
“These substantial breakthroughs mean we suddenly have a lot more intelligence in which to battle the disease,” he says, adding that better intelligence means more strategic fighting of MS.
Wright says MS causes white blood cells to leak through the brain and attack the lining of the nerves, which disrupts the signals between the brain and the rest of the body. While MS is not usually fatal, it can be life-threatening if the symptoms affect vital bodily functions.
He says recent advances in immuno-modulators or immune suppressants have been successful in “dampening” down affected immune systems and slowing the disease’s progress.
“The breakthroughs will result in better, more targeted drugs. Next will be studying gene expression to better understand the mechanisms of the disease,” he says, adding it brings solving MS closer.
- David Hutchins
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