“Disease-in-a-Dish” Approach Could Aid Huntington’s Disease Discovery Efforts

Creating induced pluripotent stem cells or iPS cells allows researchers to establish "disease-in-a-dish" models of conditions ranging from Alzheimer’s disease to diabetes. Scientists at Yerkes National Primate Research Center, Emory University, have now applied the technology to a model of Huntington’s disease (HD) in transgenic nonhuman primates, allowing the researchers to conveniently assess the efficacy of potential therapies on neuronal cells in the laboratory. The results were published online on September 4, 2014 in Stem Cell Reports. "A highlight of our model is that our progenitor cells and neurons developed cellular features of HD such as intranuclear inclusions of mutant Huntingtin protein, which most of the currently available cell models do not present," says senior author Anthony Chan, Ph.D., D.V.M., associate professor of human genetics at Emory University School of Medicine and Yerkes National Primate Research Center. "We could use these features as a read-out for therapy using drugs or a genetic manipulation." Dr. Chan and his colleagues were the first in the world to establish a transgenic nonhuman primate model of HD. HD is an inherited neurodegenerative disorder that leads to the appearance of uncontrolled movements and cognitive impairments, usually in adulthood. It is caused by a mutation that introduces an expanded region where one amino acid (glutamine) is repeated dozens of times in the huntingtin protein. The non-human primate model has extra copies of the huntingtin gene that contains the expanded glutamine repeats. In the non-human primate model, motor and cognitive deficits appear more quickly than in most cases of Huntington’s disease in humans, becoming noticeable within the first two years of the monkeys’ development.
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