Dysregulation of gene expression in the R6/2 model of polyglutamine disease: parallel changes in muscle and brain

Hum Mol Genet. 2002 Aug 15;11(17):1911-26. doi: 10.1093/hmg/11.17.1911.

Abstract

Previous analyses of gene expression in a mouse model of Huntington's disease (R6/2) indicated that an N-terminal fragment of mutant huntingtin causes downregulation of striatal signaling genes and particularly those normally induced by cAMP and retinoic acid. The present study expands the regional and temporal scope of this previous work by assessing whether similar changes occur in other brain regions affected in Huntington's disease and other polyglutamine diseases and by discerning whether gene expression changes precede the appearance of disease signs. Oligonucleotide microarrays were employed to survey the expression of approximately 11,000 mRNAs in the cerebral cortex, cerebellum and striatum of symptomatic R6/2 mice. The number and nature of gene expression changes were similar among these three regions, influenced as expected by regional differences in baseline gene expression. Time-course studies revealed that mRNA changes could only reliably be detected after 4 weeks of age, coincident with development of early pathologic and behavioral changes in these animals. In addition, we discovered that skeletal muscle is also a target of polyglutamine-related perturbations in gene expression, showing changes in mRNAs that are dysregulated in brain and also muscle-specific mRNAs. The complete dataset is available at www.neumetrix.info.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Base Sequence
  • Blotting, Northern
  • Blotting, Western
  • Brain / metabolism*
  • Brain / pathology
  • Cerebral Cortex / metabolism
  • Cerebral Cortex / pathology
  • Corpus Striatum / metabolism
  • Corpus Striatum / pathology
  • Disease Models, Animal
  • Female
  • Gene Expression Regulation
  • Humans
  • Huntingtin Protein
  • Huntington Disease / genetics*
  • Huntington Disease / metabolism
  • Huntington Disease / pathology
  • Immunoenzyme Techniques
  • Male
  • Mice
  • Mice, Transgenic
  • Molecular Sequence Data
  • Muscle, Skeletal / metabolism*
  • Muscle, Skeletal / pathology
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / metabolism
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / metabolism
  • Oligonucleotide Array Sequence Analysis
  • Peptides / genetics*
  • Peptides / metabolism
  • RNA, Messenger / metabolism

Substances

  • HTT protein, human
  • Htt protein, mouse
  • Huntingtin Protein
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Peptides
  • RNA, Messenger
  • polyglutamine

Associated data

  • GENBANK/M13227
  • GENBANK/X00351