Microtubule destabilization and nuclear entry are sequential steps leading to toxicity in Huntington's disease

Proc Natl Acad Sci U S A. 2003 Oct 14;100(21):12171-6. doi: 10.1073/pnas.2034961100. Epub 2003 Oct 3.

Abstract

There has been a longstanding debate regarding the role of proteolysis in Huntington's disease. The toxic peptide theory posits that N-terminal cleavage fragments of mutant Huntington's disease protein [mutant huntingtin (mhtt)] enter the nucleus to cause transcriptional dysfunction. However, recent data suggest a second model in which proteolysis of full-length mhtt is inhibited. Importantly, the two competing theories differ with respect to subcellular distribution of mhtt at initiation of toxicity: nuclear if cleaved and cytoplasmic in the absence of cleavage. Using quantitative single-cell analysis and time-lapse imaging, we show here that transcriptional dysfunction is "downstream" of cytoplasmic dysfunction. Primary and reversible toxic events involve destabilization of microtubules mediated by full-length mhtt before cleavage. Restoration of microtubule structure by taxol inhibits nuclear entry and increases cell survival.

Publication types

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

MeSH terms

  • Active Transport, Cell Nucleus / drug effects
  • Cell Death
  • Cell Nucleus / metabolism
  • Cell Survival / drug effects
  • Cells, Cultured
  • Cytoplasm / metabolism
  • Humans
  • Huntingtin Protein
  • Huntington Disease / etiology*
  • Huntington Disease / genetics
  • Huntington Disease / metabolism*
  • Microtubules / drug effects
  • Microtubules / metabolism*
  • Mutation
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism*
  • Nerve Tissue Proteins / toxicity
  • Neurons / drug effects
  • Neurons / metabolism
  • Neurons / pathology
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism*
  • Nuclear Proteins / toxicity
  • Paclitaxel / pharmacology

Substances

  • HTT protein, human
  • Huntingtin Protein
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Paclitaxel