Sydney researchers discover new motor neurone gene |
Researchers at the ANZAC Research Institute in Sydney have uncovered a genetic mutation that triggers motor neurone disease (MND), the fatal nerve-wasting condition.
Autopsies on people with MND found high levels of a protein made by a gene called TDP-43, but until now scientists have been unsure whether the gene was attacking the body or aiding its repair.
The team from the ANZAC Research Institute in Sydney, lead by Professor Garth Nicholson, has studied the genetic makeup of MND sufferers and found some had an abnormality in the gene.
The find, says Prof 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, though it offers hope of potential new therapies in an area otherwise devoid of treatment options.
"This is hugely exciting,"said Prof Nicholson, a senior author in the study, published in the international journal Science.
"Weve 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."
MND affects about 1,000 Australians at any one time. The disease causes the slow degeneration of nerves linking the brain to the spine and muscles, the gradual loss of motor skills, along with the ability to move, eat, drink and breathe.
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.
Prof Nicholson said the latest discovery opens the way for more promising therapies.
"Now we know this genes 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."
(Sourced from AAP)
❊ Web Links ❊
➼ Sydney researchers discover new motor neurone gene
➼ AAP
➼ ANZAC Research Institute
➼ USYD - Professor Garth Nicholson
➼ Motor Neurone Disease Association of NSW
➼ Motor Neurone Disease Australia Inc.
➼ Motor Neurone Disease Research Institute of Australia Inc.
➼ Better Health Channel - Motor Neurone Disease explained
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