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Huntington's disease breakthrough equals hope for patients
Date:2/22/2011

A huge leap forward in understanding Huntington's disease may give patients hope for a cure.

Laboratory tests on skin cells and post-mortem brain tissue of Huntington's disease patients determined that an overactive protein triggers a chain reaction that causes brain nerve cells to die. Toning down the activity of that protein, known as DRP1, prevented the chain reaction and kept those cells alive, according to the research team led by University of Central Florida Professor Ella Bossy-Wetzel.

Huntington's is an inherited, incurable neurodegenerative disease affecting 35,000 people annually. The disease gradually kills nerve cells in the brain, stripping away a person's physical abilities and causing hallucinations, antisocial behavior and paranoia.

People diagnosed with the disease usually die 15 to 20 years from the onset of symptoms, and there is an increased rate of suicide among those struggling with the disease.

"The next step will be to test the DRP1 function in animals and patients to see whether the protein also protects the brain," Bossy-Wetzel said. "This could be done before the onset of disease in patients who have the mutant Huntington gene, but have no neurological symptoms. The hope is that we might be able to delay the onset of disease by improving the energy metabolism of the brain."

The research findings were published online this week in the journal Nature Medicine, and they will be featured in the cover story of the March edition.

Until now, little has been known about how Huntington's works. Scientists knew that people with the mutant Huntington gene develop the disease. They also knew that a cell's powerhouse mitochondria, which turn food into energy was somehow involved. But until Bossy-Wetzel's team completed its work, little else was known.

"Mitochondria require balanced cycles of division and fusion to maintain their ability to produce energy," Bossy-Wetzel said
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Contact: Zenaida Gonzalez Kotala
zenaida.kotala@ucf.edu
407-823-6120
University of Central Florida
Source:Eurekalert  

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