Researchers detect possible motor neurone disease genes

Australian researchers have identified a host of genetic changes that underlie motor neurone disease, taking scientists a step closer to finding a potential treatment for the deadly illness.

Currently over 2000 Australians are living with motor neurone disease, the same condition that famous theoretical physicist Stephen Hawking has lived with for half a century.

Motor neurone disease is divided into two groups: familial, meaning there is more than one affected person in a family; and sporadic, that is, they are the only affected person in their family.

The latter accounts for 90 per cent of cases.

Currently very little is known about the sporadic form of the disease.

But now researchers from the University of Sydney and Washington University in St Louis have identified genetic variants that may play a role in the sporadic form.

The scientists sequenced the protein-coding genes of 44 patients and their parents, a difficult task given the average age of onset of the disease is around 62 years old.

"This study is very unique," said Bing Yu, Associate Professor of genetic medicine at University of Sydney.

Published in the journalist Scientific Reports, the researchers found 40 per cent of the patients had inherited rare, recessive gene variants from their parents.

Over 25 per cent had developed novel gene variants that were not present in their mothers or fathers.

"These findings completely change the previous view of sporadic motor neurone disease," said Prof Yu.

It's an important step toward developing potential treatments, he said.

"Now at least we know what genes are involved in this particular disease.

"In the future we may be able to identify some sort of interventions to treat or delay the progress of the disease."