Disruption of Rab11 activity in a knock-in mouse model of Huntington's disease

Neurobiol Dis. 2009 Nov;36(2):374-83. doi: 10.1016/j.nbd.2009.08.003. Epub 2009 Aug 20.

Abstract

The Huntington's disease (HD) mutation causes polyglutamine expansion in huntingtin (Htt) and neurodegeneration. Htt interacts with a complex containing Rab11GDP and is involved in activation of Rab11, which functions in endosomal recycling and neurite growth and long-term potentiation. Like other Rab proteins, Rab11GDP undergoes nucleotide exchange to Rab11GTP for its activation. Here we show that striatal membranes of HD(140Q/140Q) knock-in mice are impaired in supporting conversion of Rab11GDP to Rab11GTP. Dominant negative Rab11 expressed in the striatum and cortex of normal mice caused neuropathology and motor dysfunction, suggesting that a deficiency in Rab11 activity is pathogenic in vivo. Primary cortical neurons from HD(140Q/140Q) mice were delayed in recycling transferrin receptors back to the plasma membrane. Partial rescue from glutamate-induced cell death occurred in HD neurons expressing dominant active Rab11. We propose a novel mechanism of HD pathogenesis arising from diminished Rab11 activity at recycling endosomes.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell Cycle / genetics
  • Cell Line
  • Cells, Cultured
  • Disease Models, Animal*
  • Endosomes / genetics
  • Endosomes / metabolism
  • Gene Expression Regulation
  • Gene Knock-In Techniques*
  • Huntington Disease / etiology
  • Huntington Disease / genetics*
  • Huntington Disease / metabolism*
  • Mice
  • Mice, Neurologic Mutants
  • rab GTP-Binding Proteins / deficiency*
  • rab GTP-Binding Proteins / genetics*
  • rab GTP-Binding Proteins / metabolism

Substances

  • rab11 protein
  • rab GTP-Binding Proteins