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New hope for treatment of neurodegenerative disorder
Date:4/20/2009

LOS ANGELES Researchers from the University of Southern California have taken an important first step toward protecting against Huntington disease using gene therapy.

Huntington Disease is an incurable neurological disorder characterized by uncontrolled movements, emotional instability and loss of intellectual faculties. It affects about 30,000 people in the United States, and children of parents with the disease have a 50 percent chance of inheriting it themselves.

"Our findings allow for the possibility that controlled over-expression of RCAN1-1L might in the future be a viable avenue for therapeutic intervention in Huntington disease patients," said Kelvin J. A. Davies, professor of gerontology in the USC Davis School of Gerontology and professor of biological sciences in the USC College of Letters, Arts and Sciences.

In a paper in the June 2009 issue of Journal of Biological Chemistry, now available online, Davies and his coauthors use cell culture findings to show that a form of the gene RCAN1, known as RCAN1-1L, is dramatically decreased in human brains affected by Huntington disease. RCAN1-1L was first discovered in Davies' lab.

The investigators also show that increasing levels of RCAN1-1L rescues cells from the toxic effects of Huntington disease, a result that could someday lead to new avenues of treatment, according to Davies.

"Our discovery offers real hope and may even have wide-ranging implications for a variety of other important CAG repeat-related diseases," Davies said.

While the Huntington gene, which makes the normal Huntington protein, is an essential component to healthy nerve cells, the mutant Huntington gene makes a toxic mutant Huntington protein. Mutant Huntington contains increased levels of the amino acid glutamine, which is generated by a repetition of the DNA triplet CAG.

A normal Huntington gene has a sequence of between six and 34 CAG repeats. Any strand of DN
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Contact: Suzanne Wu
suzanne.wu@usc.edu
213-740-0252
University of Southern California
Source:Eurekalert

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