Overexpression of human wildtype torsinA and human DeltaGAG torsinA in a transgenic mouse model causes phenotypic abnormalities

Neurobiol Dis. 2007 Aug;27(2):190-206. doi: 10.1016/j.nbd.2007.04.015. Epub 2007 May 18.

Abstract

Primary torsion dystonia is an autosomal-dominant inherited movement disorder. Most cases are caused by an in-frame deletion (GAG) of the DYT1 gene encoding torsinA. Reduced penetrance and phenotypic variability suggest that alteration of torsinA amino acid sequence is necessary but not sufficient for development of clinical symptoms and that additional factors must contribute to the factual manifestation of the disease. We generated 4 independent transgenic mouse lines, two overexpressing human mutant torsinA and two overexpressing human wildtype torsinA using a strong murine prion protein promoter. Our data provide for the first time in vivo evidence that not only mutant torsinA is detrimental to neuronal cells but that also wildtype torsinA can lead to neuronal dysfunction when overexpressed at high levels. This hypothesis is supported by (i) neuropathological findings, (ii) neurochemistry, (iii) behavioral abnormalities and (iv) DTI-MRI analysis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Blotting, Western
  • Brain / metabolism*
  • Brain / pathology*
  • Brain Chemistry
  • Dystonia / genetics
  • Dystonia / metabolism
  • Dystonia / pathology
  • Female
  • Humans
  • Immunohistochemistry
  • Male
  • Mice
  • Mice, Transgenic
  • Microscopy, Electron, Transmission
  • Molecular Chaperones / genetics*
  • Molecular Chaperones / metabolism*
  • Motor Activity
  • Neurons / metabolism
  • Neurons / ultrastructure*
  • Neurotransmitter Agents / analysis
  • Phenotype
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • Molecular Chaperones
  • Neurotransmitter Agents
  • TOR1A protein, human