Fatal breathing dysfunction in a mouse model of Leigh syndrome

J Clin Invest. 2012 Jul;122(7):2359-68. doi: 10.1172/JCI62923. Epub 2012 Jun 1.

Abstract

Leigh syndrome (LS) is a subacute necrotizing encephalomyelopathy with gliosis in several brain regions that usually results in infantile death. Loss of murine Ndufs4, which encodes NADH dehydrogenase (ubiquinone) iron-sulfur protein 4, results in compromised activity of mitochondrial complex I as well as progressive neurodegenerative and behavioral changes that resemble LS. Here, we report the development of breathing abnormalities in a murine model of LS. Magnetic resonance imaging revealed hyperintense bilateral lesions in the dorsal brain stem vestibular nucleus (VN) and cerebellum of severely affected mice. The mutant mice manifested a progressive increase in apnea and had aberrant responses to hypoxia. Electrophysiological recordings within the ventral brain stem pre-Bötzinger respiratory complex were also abnormal. Selective inactivation of Ndufs4 in the VN, one of the principle sites of gliosis, also led to breathing abnormalities and premature death. Conversely, Ndufs4 restoration in the VN corrected breathing deficits and prolonged the life span of knockout mice. These data demonstrate that mitochondrial dysfunction within the VN results in aberrant regulation of respiration and contributes to the lethality of Ndufs4-knockout mice.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Action Potentials
  • Analysis of Variance
  • Animals
  • Apnea / genetics
  • Brain Stem / pathology
  • Brain Stem / physiopathology
  • Dependovirus / genetics
  • Disease Models, Animal
  • Electron Transport Complex I / genetics*
  • Electron Transport Complex I / metabolism
  • Genetic Therapy
  • Genetic Vectors
  • Gliosis / genetics
  • Gliosis / pathology
  • Heart Rate
  • Humans
  • In Vitro Techniques
  • Leigh Disease / genetics*
  • Leigh Disease / physiopathology
  • Leigh Disease / therapy
  • Magnetic Resonance Imaging
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Oxygen / blood
  • Oxygen / metabolism
  • Respiratory Insufficiency / genetics*
  • Respiratory Insufficiency / physiopathology
  • Respiratory Insufficiency / therapy
  • Respiratory Rate
  • Vestibular Nuclei / metabolism
  • Vestibular Nuclei / pathology
  • Vestibular Nuclei / physiopathology

Substances

  • Ndufs4 protein, mouse
  • Electron Transport Complex I
  • Oxygen