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Huntington's disease discovery provides new hope for treatment
Date:7/28/2010

Australian scientists have identified the behaviour of the mutant protein 'huntingtin' which leads to the fatal Huntington's disease providing potential targets to treat the disease, a University of Melbourne study reveals.

Huntington's disease is a genetic disease with no cure, characterized by a steady decline in motor control and the dysfunction and death of brain cells. The cause of the disease has long baffled scientists.

Symptoms tend to first appear when the person is in their thirties or forties. The most common symptom is jerky movements of the arms and legs. A person with Huntington's disease may also have difficulties with speech, swallowing and concentration.

Using state of the art technology, Dr Danny Hatters and his colleagues at the University of Melbourne's Department of Biochemistry and Molecular Biology at the Bio 21 Institute observed how human mutant 'huntingtin' proteins form into large clumps, which kills brain cells and leads to progressed Huntington's disease.

"Steps prior to the clustering of the mutated proteins were thought to damage cells, but these steps were not clearly detectable under a microscope," Dr Hatters says.

"Understanding this process and finding the right target to block the ultimate death of the brain cells has been extremely difficult to determine," he says.

The technology called analytical ultracentrifugation and the methodology the researchers developed enabled them to visualize this process in much greater detail.

"What we have shown and are the first to show, is that mutated huntingtin protein forms three different sized clusters in the damaged cells," he says.

"This discovery will help to develop a targeted treatment that shuts down the key processes causing the clusters to form and for the disease to progress."

While researchers previously thought that small clusters of the mutant protein kept accumulating over time until they over
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Contact: Rebecca Scott
rebeccas@unimelb.edu.au
61-383-440-181
University of Melbourne
Source:Eurekalert

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