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Australian researchers has uncovered a genetic mutation that triggers motor neurone disease, giving new hope for treatment of the fatal nerve-wasting condition.

Autopsies on people with motor neurone disease (MND) have found high levels of a protein made by a gene called TDP-43, but scientists were unsure whether the gene was attacking the body or helping to repair it.

A team from the ANZAC Research Institute in Sydney has studied the genetic makeup of MND sufferers and found some had an abnormality in the gene.

The find, says Professor Garth Nicholson, was enough to confirm the gene was "poisonous" in all cases of MND.

It is only the second gene to be directly linked to the condition, opening the way for a raft of potential new therapies in an area where there is a dearth of treatment options.

"This is hugely exciting," said Prof Nicholson, a senior author in the study, published in the international journal Science.

"We've been suspicious of this gene for a while.

"We knew there was smoke when high levels were found in people with MND, but now that we've found the mutation in some people, we've found the fire.

"The next step is to work out how to put the fire out."

About 1,000 Australians suffer the disease at any one time, all gradually losing their ability to move, eat, drink and breathe as nerves linking the spine and muscles to the brain slowly degenerate.

Most people die within five years of diagnosis, but the most well-known sufferer, physicist Stephen Hawking, is something of an anomaly, having lived with the condition for more than 40 years.
Some cases, about 10 per cent, are inherited through families, but most occur sporadically, usually later in life.

Treatment options are few and of limited benefit, but Prof Nicholson said the latest discovery opens the way for more promising therapies.

"Now we know this gene's involvement we, along with a lot of others, will be looking for drugs that can switch it off or regulate the levels (of the protein it produces) back down to normal," he said.

"This is obviously a long way off but there's hope there that we will be able to slow or even stop the disease from developing."

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