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Faulty clean-up process may be key event in Huntington's disease
Date:4/11/2010

April 11, 2010 (BRONX, NY) In a step towards a possible treatment for Huntington's disease, scientists at Albert Einstein College of Medicine of Yeshiva University have shown for the first time that the accumulation of a mutated protein may explain damaging cellular behavior in Huntington's disease. Their research is described in the April 11 online edition of Nature Neuroscience.

Huntington's disease, which afflicted the folksinger Woody Guthrie, is a fatal, inherited neurodegenerative disorder. While subtle personality changes and diminished physical skills may occur early in the disease, it typically becomes noticeable during middle age. Later problems include dementia and chorea jerky movements that are random and uncontrollable.

Huntington's disease results from a gene mutation that leads to a defective form of the huntingtin protein. The mutation is dominant, meaning that a child of an affected parent has a 50 percent chance of inheriting Huntington's. And since the defective protein is present in all of a person's cells, the disease causes problems in the brain and throughout the body.

"Studies have shown that Huntington's disease occurs in part because the mutated huntingtin protein accumulates within cells and is toxic to them," said Ana Maria Cuervo, M.D., Ph.D., professor of developmental and molecular biology, of anatomy and structural biology, and of medicine at Einstein and senior author of the Nature Neuroscience study. "In our investigation of how the accumulating huntingtin protein affects the functioning of cells, we found that it interferes with the cells' ability to digest and recycle their contents."

All cells rely on several different mechanisms to break down "old" proteins and other components and recycle them. Collectively known as autophagy (literally, "self-eating"), these processes keep cells clean and uncluttered and provide them with replacement parts that will function better. '/>"/>

Contact: Deirdre Branley
sciencenews@einstein.yu.edu
718-430-3101
Albert Einstein College of Medicine
Source:Eurekalert

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