8-Oxoguanine causes neurodegeneration during MUTYH-mediated DNA base excision repair

J Clin Invest. 2012 Dec;122(12):4344-61. doi: 10.1172/JCI65053. Epub 2012 Nov 12.

Abstract

8-Oxoguanine (8-oxoG), a common DNA lesion caused by reactive oxygen species, is associated with carcinogenesis and neurodegeneration. Although the mechanism by which 8-oxoG causes carcinogenesis is well understood, the mechanism by which it causes neurodegeneration is unknown. Here, we report that neurodegeneration is triggered by MUTYH-mediated excision repair of 8-oxoG-paired adenine. Mutant mice lacking 8-oxo-2'-deoxyguanosine triphosphate-depleting (8-oxo-dGTP-depleting) MTH1 and/or 8-oxoG-excising OGG1 exhibited severe striatal neurodegeneration, whereas mutant mice lacking MUTYH or OGG1/MUTYH were resistant to neurodegeneration under conditions of oxidative stress. These results indicate that OGG1 and MTH1 are protective, while MUTYH promotes neurodegeneration. We observed that 8-oxoG accumulated in the mitochondrial DNA of neurons and caused calpain-dependent neuronal loss, while delayed nuclear accumulation of 8-oxoG in microglia resulted in PARP-dependent activation of apoptosis-inducing factor and exacerbated microgliosis. These results revealed that neurodegeneration is a complex process caused by 8-oxoG accumulation in the genomes of neurons and microglia. Different signaling pathways were triggered by the accumulation of single-strand breaks in each type of DNA generated during base excision repair initiated by MUTYH, suggesting that suppression of MUTYH may protect the brain under conditions of oxidative stress.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Apoptosis Inducing Factor / metabolism
  • Benzamides / pharmacology
  • Calpain / antagonists & inhibitors
  • Calpain / metabolism
  • Cell Nucleus / metabolism
  • Corpus Striatum / pathology
  • DNA Breaks, Single-Stranded
  • DNA Glycosylases / genetics
  • DNA Glycosylases / metabolism
  • DNA Glycosylases / physiology*
  • DNA Repair*
  • DNA, Mitochondrial / genetics
  • Dipeptides / pharmacology
  • Guanine / analogs & derivatives*
  • Guanine / metabolism
  • Guanine / physiology
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Microglia / metabolism
  • Mitochondria / metabolism
  • Motor Activity
  • Neurodegenerative Diseases / etiology
  • Neurodegenerative Diseases / metabolism*
  • Neurodegenerative Diseases / pathology
  • Nitro Compounds
  • Oxidative Stress*
  • Phosphoric Monoester Hydrolases / genetics
  • Poly (ADP-Ribose) Polymerase-1
  • Poly(ADP-ribose) Polymerase Inhibitors
  • Poly(ADP-ribose) Polymerases / metabolism
  • Propionates

Substances

  • Apoptosis Inducing Factor
  • Benzamides
  • DNA, Mitochondrial
  • Dipeptides
  • Nitro Compounds
  • AIFM1 protein, mouse
  • Poly(ADP-ribose) Polymerase Inhibitors
  • Propionates
  • 8-hydroxyguanine
  • Guanine
  • 3-aminobenzamide
  • Parp1 protein, mouse
  • Poly (ADP-Ribose) Polymerase-1
  • Poly(ADP-ribose) Polymerases
  • Phosphoric Monoester Hydrolases
  • DNA Glycosylases
  • Ogg1 protein, mouse
  • mutY adenine glycosylase
  • Calpain
  • Nudt1 protein, mouse
  • 3-nitropropionic acid
  • calpain inhibitor III