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

Neurosci Lett. 2012 May 23;517(1):7-12. doi: 10.1016/j.neulet.2012.03.080.

Abstract

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 (ROR) mRNA and ROR-mediated mRNAs, also seen by immunofluorescent staining. As ROR and ROR-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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cerebellum / metabolism
  • Cerebellum / pathology
  • Disease Models, Animal
  • Down-Regulation
  • Female
  • Huntington Disease / genetics*
  • Huntington Disease / metabolism
  • Mice
  • Mice, Transgenic
  • Nuclear Receptor Subfamily 1, Group F, Member 1 / genetics*
  • Nuclear Receptor Subfamily 1, Group F, Member 1 / metabolism
  • Purkinje Cells / cytology*
  • Purkinje Cells / metabolism*
  • RNA, Messenger / metabolism
  • Real-Time Polymerase Chain Reaction
  • Spinocerebellar Ataxias / genetics
  • Spinocerebellar Ataxias / metabolism

Substances

  • Nuclear Receptor Subfamily 1, Group F, Member 1
  • RNA, Messenger