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. . 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. ) the data suggest common pathogenic mechanisms for both polyglutamine diseases. (c) 2012 Published by Elsevier Ireland Ltd.
Keywords: Huntington's Disease ; Laser Capture Microdissection ; Purkinje cell ; Retinoid acid receptor-related orphan receptor alpha ; Real time quantitative PCR ; Gene expression ; Mouse Model ; Ror-Alpha ; Trinucleotide Repeat ; Neurodegeneration ; Neurons ; Cerebellum ; Protein ; Dysregulation ; Dysfunction ; Disorders
Record created on 2012-06-22, modified on 2016-08-09