hMTH1 expression protects mitochondria from Huntington's disease-like impairment

Neurobiol Dis. 2013 Jan;49(12):148-58. doi: 10.1016/j.nbd.2012.09.002. Epub 2012 Sep 10.

Abstract

Huntington disease (HD) is a neurodegenerative disease caused by expansion of CAG repeats in the huntingtin (Htt) gene. The expression of hMTH1, the human hydrolase that degrades oxidized purine nucleoside triphosphates, grants protection in a chemical HD mouse model in which HD-like features are induced by the mitochondrial toxin 3-nitropropionic acid (3-NP). To further examine the relationship between oxidized dNTPs and HD-like neurodegeneration, we studied the effects of hMTH1 expression in a genetic cellular model for HD, such as striatal cells expressing mutant htt (Hdh(Q111)). hMTH1 expression protected these cells from 3-NP and H2O2-induced killing, by counteracting the mutant htt-dependent increased vulnerability and accumulation of nuclear and mitochondrial DNA 8-hydroxyguanine levels. hMTH1 expression reverted the decreased mitochondrial membrane potential characteristic of Hdh(Q111) cells and delayed the increase in mitochondrial reactive oxygen species associated with 3-NP treatment. Further indications of hMTH1-mediated mitochondrial protection are the partial reversion of 3-NP-induced alterations in mitochondrial morphology and the modulation of DRP1 and MFN1 proteins, which control fusion/fission rates of mitochondria. Finally, in line with the in vitro findings, upon 3-NP in vivo treatment, 8-hydroxyguanine levels in mitochondrial DNA from heart, muscle and brain are significantly lower in transgenic hMTH1-expressing mice than in wild-type animals.

Keywords: 8-hydroxyguanine; Mitochondria; Oxidative stress; hMTH1.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Brain / pathology
  • Brain / physiopathology
  • Cell Death / drug effects
  • Cell Death / physiology
  • Cell Line
  • Cells, Cultured
  • DNA Repair Enzymes / metabolism*
  • DNA, Mitochondrial / metabolism
  • Disease Models, Animal
  • Humans
  • Huntingtin Protein
  • Huntington Disease / pathology
  • Huntington Disease / physiopathology*
  • Hydrogen Peroxide / toxicity
  • Membrane Potential, Mitochondrial / physiology
  • Mice, Transgenic
  • Mitochondria / pathology
  • Mitochondria / physiology*
  • Muscle, Skeletal / metabolism
  • Mutation
  • Myocardium / metabolism
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism
  • Nitro Compounds / toxicity
  • Oxidative Stress / drug effects
  • Oxidative Stress / physiology
  • Phosphoric Monoester Hydrolases / metabolism*
  • Propionates / toxicity
  • Reactive Oxygen Species / metabolism

Substances

  • DNA, Mitochondrial
  • HTT protein, human
  • Huntingtin Protein
  • Nerve Tissue Proteins
  • Nitro Compounds
  • Propionates
  • Reactive Oxygen Species
  • Hydrogen Peroxide
  • Phosphoric Monoester Hydrolases
  • 8-oxodGTPase
  • DNA Repair Enzymes
  • 3-nitropropionic acid