Recent advances pinpointing genes involved in the inherited form of Motor Neurone Disease (MND) are now being used to hunt for the culprits of ‘sporadic’ cases.
Sporadic MND is the most common form (around 90 per cent), and unlike the ‘familial,’ disease, it appears in patients without a family history.
Also known as ALS (of Ice Bucket Challenge fame), the disease attacks the nerves of the brain and spinal cord. Sufferers lose the use of their muscles—their ability to walk, talk, and ultimately breathe—within years, and there is no known treatment or cure. Around 2,000 Australians currently have the disease.
“We’ve identified six main genes as the genetic cause in around 60 per cent of familial cases – four years ago we only knew 20 per cent,” says Associate Professor Ian Blair of Macquarie University.
Ian and his multidisciplinary team are shifting the focus to the sporadic form, collaborating with scientists around the country and overseas in the Sporadic ALS Australian Systems Genomics Consortium. They’re recruiting patients and collecting samples for use in genetic studies—for example to mimic the disease in zebrafish at Macquarie.
Another is Project MinE—the largest international study into the disease’s genetics, of which Ian co-leads the Australian arm.
They plan to map all DNA of 15,000 people with the sporadic form and 7,500 healthy ‘controls’ from 16 countries.
Ian says around half of the underlying causes of sporadic MND may be genetic, but are coupled with environmental factors. The team hopes that by identifying risk factors—both within a person and their environment—they can limit and eventually prevent this devastating disease.
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