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Breakthrough in search for Huntington's treatmenthttp://www.abc.net.au/news/stories/2010/07/28/2967082.htm


By Samantha Donovan
Posted
Wed Jul 28, 2010 10:28pm AEST


Huntington's disease can be controlled to a limited degree but is invariably fatal. (Reuters: Michaela Rehle, file photo)

Melbourne researchers believe they have made a breakthrough in the search for a treatment for Huntington's disease.
The new research may also have implications for other degenerative diseases like Alzheimer's, Parkinson's and Motor Neurone.
Huntington's disease is a genetic disorder which destroys brain cells, affecting the way people think and move.
Some symptoms can be controlled to a limited degree but the disease is invariably fatal.
The first signs of Huntington's disease usually appear in people in their 30s and 40s.
While some sufferers may have known the gene was carried in their family, others are taken completely by surprise.
As the disease progresses, jerky leg and arm movements become morecommon and the sufferer is likely to have trouble talking, swallowingand concentrating.
The cause of the disease has mystified scientists.
But now researchers at the University of Melbourne have discoveredmore about the behaviour of the mutant protein called Huntington thatleads to the fatal condition.
"We've known for a long time exactly what gene causes the diseasebut it's been a real mystery as to how this gene actually causes thecells to die," said researcher Danny Hatters, who specialises inneurodegenerative diseases.
"We do know that the gene causes these mutations that cause thecranium to form very large clusters that you can see under a microscope.
"But what's really been difficult is trying to determine how the clusters form before they form these big clumps.
"This is critical because we think these smaller clusters are what is actually toxic to the cells."
Dr Hatters says his team has now developed a technique to measure the size of these clusters.
"What's been known for a long time is that these big clustersactually form after the damage has been done to the cells," he said.
"You can't see the very small clusters under a typical microscope sowhat we've done is developed a new technique that allows us to actuallymeasure how big these clusters are.
"Probably the easiest way for people to think about this is to thinkabout if you take a bucket of sand and you're at the beach and you spinaround and you create centrifugal force - that's very similar to howthis technique works.
"We take our sample, we can take a cell mixture and we can put itinto a special container that spins around a very, very highgravitational force and we have a sophisticated laser set-up thatshines right through this sample.
"What it allows us to do is to measure exactly how fast thedifferent proteins can actually travel through this gravitationalforce."
Dr Hatters says it appears that small clusters of the mutantproteins are the most important factor in the search for a treatment.
"Now that we can actually see these small clusters and we canmeasure how much of the protein is in these small clusters, it allowsus to take our potential drugs that we might want to use to treatHuntington's disease and measure exactly how it's clustered," he said.
"It gives us a more direct handle on the exact processes that areoccurring right inside the cells and I think this will be really quiteimportant for future therapeutic strategies."
Tammy Gardner, from Huntington's Victoria, says the research may eventually improve the quality of life of sufferers.
"It's interesting in that it's looking at the actual Huntington'sgene rather than looking at strategies to improve quality of life," shesaid.
"There are very limited medical interventions available at themoment and this research is reviewing perhaps more options in relationto medical intervention."