Gene breakthrough for motor neurone disease

THIS IS THE INTERVIEW TRANSCRIPT

AM - Gene breakthrough for motor neurone disease [This is the print version of story http://www.abc.net.au/am/content/2008/s2175916.htm]
AM - Friday, 29 February , 2008 08:00:00
Reporter: Sophie Scott
PETER CAVE: Australian scientists have made an important discovery about what causes the devastating illness, motor neurone disease. They have found it's an abnormal gene which kills the nerves from the brain to all the muscles in the body.National medical reporter, Sophie Scott, is speaking to Professor Garth Nicholson from the ANZAC Research Institute.
GARTH NICHOLSON: Some years ago, it was found that a particular protein was present in large amounts in the spinal cords of people dying from motor neurone disease and associated dementia, which is often occurring with motor neurone disease. This protein is called TDP43. So, we looked at TDP43 in families with motor neurone disease to see if it could cause motor neurone disease running in families, because we didn't know whether the protein found in the spinal cord was trying to help the body recover from the disease or was actually poisoning the body. And so this was the smoke, it had something to do with motor neurone disease, and we've actually found a fire, because 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.
SOPHIE SCOTT: So, how important is that, given that we haven't really known what causes this disease up until now?
GARTH NICHOLSON: This … many people have thought for years that motor neurone disease might be some poison of some sort in 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.
SOPHIE SCOTT: What are the implications of that for things like prevention or treatment?GARTH NICHOLSON: Yes, if we're right and this is indeed the protein that's causing damage in the majority of patients with motor neurone diseases, so opens up the chance of trying to reduce this protein or get rid of it, or prevent it. And then you'd have either a prevention or a cure for the disease.
SOPHIE SCOTT: At the moment, what's the situation with either treating patients with motor neurone or offering them some hope?
GARTH NICHOLSON: Motor neurone disease is probably many diseases, and some varieties are extremely lethal, killing people in three months, and some varieties go for years and years, you know, it doesn't really kill people. So, there's a big variation in motor neurone disease and this may reflect all different varieties of motor neurone disease with different mechanisms. But if there's an underlying mechanism that's common to all, then you've got a chance of a treatment. And because this protein is generally … is found in all motor neurone disease, this does offer some hope that we might find a general treatment for all.
PETER CAVE: Professor Garth Nicholson, ending that report from our national medical reporter, Sophie Scott.