A Cellular Model for Huntington's Disease

Emory University
posted on 07/07/2009

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Applications

Diagnosis and treatment of Huntington's disease.

Technical Summary

Huntington's disease (HD) is a genetically inherited disease that leads to progressive neurodegeneration, resulting in motor disturbances, loss of memory and cognition, and psychiatric manifestations. The underlying molecular and biochemical basis of HD are not fully understood, and consequently there is no treatment effective in delaying or preventing the onset and progression of this devastating disorder. HD cell models are useful tools in elucidating the mechanistic basis of HD. However, most of the reported cell models have used transient transfection in which the expression levels of transfected proteins vary greatly and alter cell function and viability.

The present invention provides methods and compositions for the study, diagnosis, and treatment of HD. Compositions comprise stably transfected cell lines that can serve as cellular models of HD, an antin associated with HD, and monoclonal antibodies specific for the antigen. The neuronal cell lines provided are morphologically and phenotypically similar to and contain the same cellular defects as cells derived from animal models of HD and/or HD patients.