Inhibition of mitochondrial fragmentation diminishes Huntington's disease-associated neurodegeneration

J Clin Invest. 2013 Dec;123(12):5371-88. doi: 10.1172/JCI70911. Epub 2013 Nov 15.

Abstract

Huntington's disease (HD) is the result of expression of a mutated Huntingtin protein (mtHtt), and is associated with a variety of cellular dysfunctions including excessive mitochondrial fission. Here, we tested whether inhibition of excessive mitochondrial fission prevents mtHtt-induced pathology. We developed a selective inhibitor (P110-TAT) of the mitochondrial fission protein dynamin-related protein 1 (DRP1). We found that P110-TAT inhibited mtHtt-induced excessive mitochondrial fragmentation, improved mitochondrial function, and increased cell viability in HD cell culture models. P110-TAT treatment of fibroblasts from patients with HD and patients with HD with iPS cell-derived neurons reduced mitochondrial fragmentation and corrected mitochondrial dysfunction. P110-TAT treatment also reduced the extent of neurite shortening and cell death in iPS cell-derived neurons in patients with HD. Moreover, treatment of HD transgenic mice with P110-TAT reduced mitochondrial dysfunction, motor deficits, neuropathology, and mortality. We found that p53, a stress gene involved in HD pathogenesis, binds to DRP1 and mediates DRP1-induced mitochondrial and neuronal damage. Furthermore, P110-TAT treatment suppressed mtHtt-induced association of p53 with mitochondria in multiple HD models. These data indicate that inhibition of DRP1-dependent excessive mitochondrial fission with a P110-TAT-like inhibitor may prevent or slow the progression of HD.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Animals
  • Cells, Cultured
  • Child
  • Corpus Striatum / pathology
  • Disease Models, Animal
  • Dynamins / antagonists & inhibitors*
  • Fibroblasts
  • GTP Phosphohydrolases / antagonists & inhibitors*
  • Gene Knock-In Techniques
  • HEK293 Cells
  • Humans
  • Huntington Disease / drug therapy*
  • Huntington Disease / pathology
  • Induced Pluripotent Stem Cells / pathology
  • Male
  • Mice
  • Mice, Transgenic
  • Microtubule-Associated Proteins / antagonists & inhibitors*
  • Mitochondria / drug effects*
  • Mitochondria / physiology
  • Mitochondrial Proteins / antagonists & inhibitors*
  • Molecular Targeted Therapy
  • Nerve Degeneration / prevention & control
  • Neurites / ultrastructure
  • Neurogenesis
  • Protein Binding
  • Recombinant Proteins / metabolism
  • Tumor Suppressor Protein p53 / metabolism

Substances

  • Microtubule-Associated Proteins
  • Mitochondrial Proteins
  • Recombinant Proteins
  • TP53 protein, human
  • Tumor Suppressor Protein p53
  • GTP Phosphohydrolases
  • DNM1L protein, human
  • Dnm1l protein, mouse
  • Dynamins