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Human model of Huntington’s disease created from skin’s stem cells

‘HD in a dish’ will facilitate search for elusive treatment
An international consortium of Huntington’s disease experts, including several from the Sue & Bill Gross Stem Cell Research Center at UC Irvine, has generated a human model of the deadly inherited disorder directly from the skin cells of affected patients.

The re-created neurons, which live in a petri dish, will help researchers better understand what disables and kills brain cells in people with HD and let them gauge the effects of potential drug therapies on cells that are otherwise locked deep in the brain.

UCI scientists were part of a consortium that in 1993 identified the autosomal dominant gene mutation responsible for HD, but there is still no cure, and no treatments are available to even slow its onset or progression. The research, published online today in the journal Cell Stem Cell, is the work of the Huntington’s Disease iPSC Consortium. Participants examined several other cell lines and control cell lines to ensure that their results were consistent and reproducible in different labs.

“Our discovery will enable us for the first time to test therapies on human Huntington’s disease neurons,” said Leslie Thompson, UCI professor of psychiatry & human behavior and neurobiology & behavior, one of the world’s leading HD experts and a senior author of the study. “This has been a remarkable time in HD research, with the advent of stem cell technologies that have allowed these scientific advancements. Also, having a team of scientists working together as a consortium has benefited the research tremendously and accelerated its pace.”

Leslie Lock, a UCI assistant professor of developmental & cell biology and biological chemistry whose lab helped develop the induced pluripotent stem cells (iPSC), added: “It’s exciting to be carrying out work that provides hope for HD patients and their families.”

Thompson said that UCI scientists will use the new model to study the specific gene expression changes in human brain cells that trigger the onset of HD, helping them understand how these changes happen and how to correct them.

Huntington’s disease afflicts about 30,000 people in the U.S. — typically striking in midlife — and another 75,000 carry the gene that will eventually lead to it. Caused by a mutation in the gene for a protein called huntingtin, the disease damages brain cells so that individuals with HD progressively lose their ability to walk, talk and reason. It invariably culminates in death. While rare, HD is the most common inherited neurodegenerative disease.

Alvin King, Malcolm Casale, Sara Winokur, Gayani Batugedara, Marquis Vawter and Peter Donovan of UCI contributed to the study.

The consortium also includes scientists from Cedars-Sinai Medical Center in Los Angeles; the Johns Hopkins University School of Medicine in Baltimore; the University of Wisconsin School of Medicine & Public Health; Massachusetts General Hospital/Harvard Medical School; UC San Francisco; the Gladstone Institute of Neurological Disease in San Francisco; Cardiff University in Wales; the University of Milan; and the CHDI Foundation. It’s one of three consortia funded by the National Institute of Neurological Disorders & Stroke through the American Recovery & Reinvestment Act of 2009.

The California Institute of Regenerative Medicine and the CHDI Foundation also provided support. King is a CIRM Fellow.

About the University of California, Irvine: Founded in 1965, UCI is a top-ranked university dedicated to research, scholarship and community service. Led by Chancellor Michael Drake since 2005, UCI is among the most dynamic campuses in the University of California system, with nearly 28,000 undergraduate and graduate students, 1,100 faculty and 9,000 staff. Orange County’s second-largest employer, UCI contributes an annual economic impact of $4 billion. For more UCI news, visit

News Radio: UCI maintains on campus an ISDN line for conducting interviews with its faculty and experts. Use of this line is available for a fee to radio news programs/stations that wish to interview UCI faculty and experts. Use of the ISDN line is subject to availability and approval by the university.

Tom Vasich | EurekAlert!
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