Scientists at the Albert Einstein College of Medicine of Yeshiva University said they have shown for the first time that the accumulation of a mutated protein might explain damaging cellular behavior found in Huntington's disease.
Huntington's disease is a fatal, inherited neurodegenerative disorder that eventually causes personality changes, diminished physical skills, 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, scientists said.
"Studies have shown that Huntington's disease occurs in part because the mutated huntingtin protein accumulates within cells and is toxic to them," said Dr. Ana Maria Cuervo, a professor of developmental and molecular biology and senior author of the 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."
The researchers said their findings suggest potential treatment strategies.
The study is described in the early online edition of the journal Nature Neuroscience.
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