Journal article

Gene expression analysis on a single cell level in Purkinje cells of Huntington's disease transgenic mice

Ataxia is a clinical feature of most polyglutamine disorders. Cerebellar neurodegeneration of Purkinje cells (PCs) in Huntington's Disease (HD) brain was described in the 1980s. PC death in the R6/2 transgenic model for HD was published by Turmaine et al. [27]. So far, PCs have not been examined on a single cell level. In order to begin to understand PC dysfunction and degeneration in HD we performed a gene expression study on laser-dissected PC based on a DNA microarray screening and quantitative real time PCR (Q-PCR). We demonstrate downregulation of the retinoid acid receptor-related orphan receptor alpha (ROR alpha) mRNA and ROR alpha-mediated mRNAs, also seen by immunofluorescent staining. As ROR alpha and ROR alpha-dependent transcriptional dysregulation is not only found in the R6/2 model for HD but also in a model for spinocerebellar ataxia type 1 (SCA1) (Serra et al. [24]) the data suggest common pathogenic mechanisms for both polyglutamine diseases. (c) 2012 Published by Elsevier Ireland Ltd.


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