New Evidence Indicates Traffic Jams in Nuclear Pores Cause Brain Cell Death in Huntington’s Disease

Working with mouse, fly, and human cells and tissue, Johns Hopkins researchers and collaborators report new evidence that disruptions in the movement of cellular materials in and out of a cell's control center -- the nucleus -- appear to be a direct cause of brain cell death in Huntington's disease, an inherited adult neurodegenerative disorder. Moreover, they suggest, laboratory experiments with drugs designed to clear up these cellular "traffic jams" restored normal transport in and out of the nucleus and saved the cells. In the featured article published in the April 5, 2017 issue of Neuron, the researchers also conclude that potential treatments targeting the transport disruptions they identified in Huntington's disease neurons may also work for other neurodegenerative diseases, such as ALS and forms of dementia. The Neuron article is titled “Mutant Huntingtin Disrupts the Nuclear Pore Complex.” Huntington's disease is a relatively rare fatal inherited condition that gradually kills off healthy nerve cells in the brain, leading to loss of language, thinking and reasoning abilities, memory, coordination, and movement. Its course and effects are often described as Alzheimer's disease, Parkinson's disease, and ALS rolled into one, making Huntington's disease a rich focus of scientific investigation. "We're trying to get at the heart of the mechanism behind neurodegenerative diseases and with this research believe we've found one that seems to be commonly disrupted in many of them, suggesting that similar drugs may work for some or all of these disorders," says Jeffrey Rothstein, M.D., Ph.D., a Professor of Neurology and Neuroscience, and Director of the Brain Science Institute and the Robert Packard Center for ALS Research at the Johns Hopkins University School of Medicine.
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