AOX delays the onset of the lethal phenotype in a mouse model of Uqcrh (complex III) disease

Biochim Biophys Acta Mol Basis Dis. 2023 Oct;1869(7):166760. doi: 10.1016/j.bbadis.2023.166760. Epub 2023 May 23.

Abstract

The alternative oxidase, AOX, provides a by-pass of the cytochrome segment of the mitochondrial respiratory chain when the chain is unavailable. AOX is absent from mammals, but AOX from Ciona intestinalis is benign when expressed in mice. Although non-protonmotive, so does not contribute directly to ATP production, it has been shown to modify and in some cases rescue phenotypes of respiratory-chain disease models. Here we studied the effect of C. intestinalis AOX on mice engineered to express a disease-equivalent mutant of Uqcrh, encoding the hinge subunit of mitochondrial respiratory complex III, which results in a complex metabolic phenotype beginning at 4-5 weeks, rapidly progressing to lethality within a further 6-7 weeks. AOX expression delayed the onset of this phenotype by several weeks, but provided no long-term benefit. We discuss the significance of this finding in light of the known and hypothesized effects of AOX on metabolism, redox homeostasis, oxidative stress and cell signaling. Although not a panacea, the ability of AOX to mitigate disease onset and progression means it could be useful in treatment.

Keywords: Alternative oxidase; Complex III; Growth impairment; Hyperglycemia; Insulin sensitivity; Mitochondrial disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Electron Transport Complex III* / genetics
  • Electron Transport Complex III* / metabolism
  • Mammals / metabolism
  • Mice
  • Mitochondria* / metabolism
  • Mitochondrial Membranes / metabolism
  • Oxidation-Reduction
  • Phenotype
  • Transcription Factors / metabolism

Substances

  • Electron Transport Complex III
  • Transcription Factors