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

Date:
June 28, 2012
Source:
University of California - Irvine
Summary:
An international consortium of Huntington's disease experts, including several from the Sue and 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.

UC Irvine's Leslie Thompson.
Credit: Daniel A. Anderson / University Communications

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 June 28 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.


Story Source:

The above story is based on materials provided by University of California - Irvine. Note: Materials may be edited for content and length.


Journal Reference:

  1. TheHDiPSCConsortium. Induced Pluripotent Stem Cells from Patients with Huntington's Disease Show CAG-Repeat-Expansion-Associated Phenotypes. Cell Stem Cell, 2012; DOI: 10.1016/j.stem.2012.04.027

Cite This Page:

University of California - Irvine. "Human model of Huntington's disease created from skin's stem cells." ScienceDaily. ScienceDaily, 28 June 2012. <www.sciencedaily.com/releases/2012/06/120628164700.htm>.
University of California - Irvine. (2012, June 28). Human model of Huntington's disease created from skin's stem cells. ScienceDaily. Retrieved September 18, 2014 from www.sciencedaily.com/releases/2012/06/120628164700.htm
University of California - Irvine. "Human model of Huntington's disease created from skin's stem cells." ScienceDaily. www.sciencedaily.com/releases/2012/06/120628164700.htm (accessed September 18, 2014).

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Turning Skin Cells Into Brain Cells: Huntington's Disease in a Dish

June 28, 2012 Scientists have generated stem cells from skin cells from a person with a severe, early-onset form of Huntington's disease, and turned them into neurons that degenerate just like those affected ... read more
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