Washington: Scientists have created a human model of Huntington’s disease, 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.
The latest research is the work of an international consortium of Huntington’s disease experts, including several from the Sue and Bill Gross Stem Cell Research Center at UC Irvine.
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.
“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 and human behaviour and neurobiology and 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,” Thompson noted.
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 thousands of people— typically striking in midlife — and many 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.
The study has been published online in the journal Cell Stem Cell.