Suppression of Somatic Expansion Delays the Onset of Pathophysiology in a Mouse Model of Huntington's Disease

PLoS Genet. 2015 Aug 6;11(8):e1005267. doi: 10.1371/journal.pgen.1005267. eCollection 2015 Aug.

Abstract

Huntington's Disease (HD) is caused by inheritance of a single disease-length allele harboring an expanded CAG repeat, which continues to expand in somatic tissues with age. The inherited disease allele expresses a toxic protein, and whether further somatic expansion adds to toxicity is unknown. We have created an HD mouse model that resolves the effects of the inherited and somatic expansions. We show here that suppressing somatic expansion substantially delays the onset of disease in littermates that inherit the same disease-length allele. Furthermore, a pharmacological inhibitor, XJB-5-131, inhibits the lengthening of the repeat tracks, and correlates with rescue of motor decline in these animals. The results provide evidence that pharmacological approaches to offset disease progression are possible.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Cyclic N-Oxides / pharmacology*
  • Cyclic N-Oxides / therapeutic use
  • DNA Glycosylases / genetics
  • Disease Models, Animal
  • Disease Progression
  • Female
  • Huntington Disease / drug therapy
  • Huntington Disease / genetics*
  • Huntington Disease / pathology
  • Male
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Trinucleotide Repeat Expansion / drug effects*

Substances

  • Cyclic N-Oxides
  • XJB-5-131
  • DNA Glycosylases
  • Ogg1 protein, mouse