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Motor neurone disease breakthrough PRINT FRIENDLY EMAIL STORY
The World Today - Friday, 29 February , 2008 12:30:00
Reporter: Samantha Donovan
ELEANOR HALL: It is a disease which gradually shuts down your ability to walk, talk and breathe and it affects around 1,300 Australians. Now Australian researchers say they're optimistic that a breakthrough in research will lead to a cure for the fatal disease.

They've discovered that a genetic abnormality triggers the condition, but they're warning a cure is likely to be years away, as Samantha Donovan reports.

SAMANTHA DONOVAN: Motor neurone disease kills about one Australian every day. It typically strikes down people in their 50s to 70s, and the average time from diagnosis to death is about 14 months.

But some sufferers will live for years, the cells in their spinal cord gradually dying until they're unable to move or breathe without help. As yet there's no effective drug to slow its progress.

Professor Garth Nicholson from the ANZAC Research Institute says several years ago a protein called TDP43 was discovered to be common in the spinal cords of MND patients. But researchers weren't sure if it was causing the disease or trying to help the body recover.

Professor Nicholson says they're now sure of its role.

GARTH NICHOLSON: We have proven in the families that have motor neurone disease with a mutation in this gene, this is causative, it causes motor neurone disease.

Of the many people who have thought for years that motor neurone disease might be some poison of some sort and on the environment, but here we've been able to show that it seems to be a poison in the body itself. Something's going wrong so the mechanism actually becomes dangerous and leads to the death of the neurones.

SAMANTHA DONOVAN: Professor Nicholson says if researchers are right, work on products to inhibit the growth of the protein in the body or stop its development altogether can start.

Royal Melbourne Hospital neurologist Dr Andrew Evans says the discovery is very exciting, but treating abnormal genes is difficult.

ANDREW EVANS: This particular gene, it does give a very, very strong clue and it seems to be not only is it perhaps involved in just a few familial forms of motor neurone disease, but in fact in sporadic forms as well.

So, the hope is that this … any advances made in this gene will be translatable to most sufferers of the disease. But it's … it will be probably many years before that happens.

SAMANTHA DONOVAN: Sixty-five year-old Victorian Rick Quinn was diagnosed with motor neurone disease 10 years ago. He feels fortunate to still have the power of speech.

RICK QUINN: My situation now is that I'm wheelchair bound. I'm effectively quadriplegic. It worked up from one leg across to two legs and then up through my top.

I was similar to most people I guess; started off with a walking stick, then I had to progress to a walking frame, then I was able to use a manual chair for a few years because my arms were still not affected, but then they gradually became affected and weakened.

And it's gradually worked its way up my body now and as I say, I'm in the electric wheelchair now, I can't even use the joystick, because I can't move my arms.

SAMANTHA DONOVAN: Rick Quinn is thrilled that progress on the cause of the disease is being made.

RICK QUINN: Anything that can find the cause of this disease is great because obviously the worst part that they tell us is that they can't find a cure until they find the cause. And then of course your children, you start to worry about your own children because as they say, it could start the familial, one could start with you.

So anything that could really stop this thing in its tracks, and find it is very exciting actually.

SAMANTHA DONOVAN: Have you found it frustrating in all these years of just not knowing what the actual cause is?

RICK QUINN: Yes, certainly, because as I say, it's so sporadic ..(inaudible).. for most of us, and none of my family have had it and all of a sudden for it to appear on me.

And I've spoken to some other guys with MND and they feel that because of their bad past lives, it's coming back to haunt them, but I say, "Well, I never had a past life. I just worked hard and didn't smoke and didn't drink terribly much"

And for something like this to happen, perhaps Lotto odds, you know, but I think I was in the wrong queue.

ELEANOR HALL: That's Victorian Rick Quinn who has motor neurone disease. He was speaking to Samantha Donovan.

http://www.abc.net.au/worldtoday/con...8/s2176534.htm