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Huntington's disease study shows animal models on target

This release is available in French.

An international team of researchers has published a benchmark study showing that gene expression in several animal models of Huntingtons Disease (HD) closely resembles that of human HD patients.

The results, published August 1, 2007, in the journal Human Molecular Genetics, validate the applicability of using animal models to study human disease and will have important consequences for the pertinence of these models in preclinical drug testing.

Huntington's disease is an incurable and fatal hereditary neurodegenerative disorder caused by a mutation in the gene that encodes the huntingtin protein. Neurons in certain regions of the brain succumb to the effects of the altered protein, leading to severe motor, psychiatric, and cognitive decline. Several recent studies have shown that the mutant huntingtin protein modifies the transcriptional activity of genes in affected neurons. This disease mechanism is a promising new avenue for research into the causes of neuronal death and a novel potential approach for treatment.

Led by EPFL professor Ruth Luthi-Carter, and involving collaborators from six countries, the current study found a marked resemblance between the molecular etiology of neurons in animal models and neurons in patients with HD. This implies that animal models are relevant for studying human HD and testing potential treatments.

To come to this conclusion, the scientists measured the gene expression profile of seven different transgenic mouse models of HD, representing different conditions and disease stages. These profiles clarified the role of different forms and dosages of the protein hungtintin in the transcriptional activity of neurons. They then designed and implemented novel computational methods for quantifying similarities between RNA profiles that would allow for comparisons
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Contact: Alexandre Kuhn
alexandre.kuhn@epfl.ch
41-216-931-731
Ecole Polytechnique Fdrale de Lausanne
31-Jul-2007


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4. Landmark study identifies large number of new proteins implicated in Huntingtons disease
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6. Proteasome activator enhances survival of Huntingtons disease neuronal model cells
7. Test reveals effectiveness of potential Huntingtons disease drugs
8. Metabolic disorder underlies Huntingtons disease
9. Unique Huntingtons study moves forward
10. Gene therapy injected into the brains of mice with Huntingtons disease
11. Research suggests cause of neurodegeneration in Huntingtons disease

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