Mutant huntingtin impairs Ku70-mediated DNA repair

J Cell Biol. 2010 May 3;189(3):425-43. doi: 10.1083/jcb.200905138.

Abstract

DNA repair defends against naturally occurring or disease-associated DNA damage during the long lifespan of neurons and is implicated in polyglutamine disease pathology. In this study, we report that mutant huntingtin (Htt) expression in neurons causes double-strand breaks (DSBs) of genomic DNA, and Htt further promotes DSBs by impairing DNA repair. We identify Ku70, a component of the DNA damage repair complex, as a mediator of the DNA repair dysfunction in mutant Htt-expressing neurons. Mutant Htt interacts with Ku70, impairs DNA-dependent protein kinase function in nonhomologous end joining, and consequently increases DSB accumulation. Expression of exogenous Ku70 rescues abnormal behavior and pathological phenotypes in the R6/2 mouse model of Huntington's disease (HD). These results collectively suggest that Ku70 is a critical regulator of DNA damage in HD pathology.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Antigens, Nuclear / metabolism*
  • Cell Line
  • DNA Breaks, Double-Stranded
  • DNA Damage
  • DNA Repair / genetics*
  • DNA-Binding Proteins / metabolism*
  • HeLa Cells
  • Humans
  • Huntington Disease / genetics
  • Huntington Disease / metabolism
  • Ku Autoantigen
  • Mice
  • Mutation*
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / metabolism
  • Neurons / metabolism
  • Rats
  • Rats, Wistar

Substances

  • Antigens, Nuclear
  • DNA-Binding Proteins
  • Nerve Tissue Proteins
  • Xrcc6 protein, human
  • Xrcc6 protein, mouse
  • Xrcc6 protein, rat
  • Ku Autoantigen