MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention

Hum Mol Genet. 2015 Apr 15;24(8):2247-66. doi: 10.1093/hmg/ddu743. Epub 2014 Dec 30.

Abstract

Mitochondrial diseases often exhibit tissue-specific pathologies, but this phenomenon is poorly understood. Here we present regulation of mitochondrial translation by the Mitochondrial Translation Optimization Factor 1, MTO1, as a novel player in this scenario. We demonstrate that MTO1 mediates tRNA modification and controls mitochondrial translation rate in a highly tissue-specific manner associated with tissue-specific OXPHOS defects. Activation of mitochondrial proteases, aberrant translation products, as well as defects in OXPHOS complex assembly observed in MTO1 deficient mice further imply that MTO1 impacts translation fidelity. In our mouse model, MTO1-related OXPHOS deficiency can be bypassed by feeding a ketogenic diet. This therapeutic intervention is independent of the MTO1-mediated tRNA modification and involves balancing of mitochondrial and cellular secondary stress responses. Our results thereby establish mammalian MTO1 as a novel factor in the tissue-specific regulation of OXPHOS and fine tuning of mitochondrial translation accuracy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Carrier Proteins / chemistry
  • Carrier Proteins / genetics
  • Carrier Proteins / metabolism*
  • Diet, Ketogenic
  • Fibroblasts / metabolism
  • Humans
  • Mice
  • Mitochondria / metabolism
  • Mitochondrial Diseases / drug therapy*
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / metabolism*
  • Mitochondrial Proteins
  • Molecular Sequence Data
  • Organ Specificity
  • Oxidative Phosphorylation*
  • Protein Biosynthesis*
  • RNA, Transfer / genetics
  • RNA, Transfer / metabolism*
  • RNA-Binding Proteins
  • Sequence Alignment

Substances

  • Carrier Proteins
  • MTO1 protein, human
  • Mitochondrial Proteins
  • Mto1 protein, mouse
  • RNA-Binding Proteins
  • RNA, Transfer