Mutations in the Caenorhabditis elegans orthologs of human genes required for mitochondrial tRNA modification cause similar electron transport chain defects but different nuclear responses

PLoS Genet. 2017 Jul 21;13(7):e1006921. doi: 10.1371/journal.pgen.1006921. eCollection 2017 Jul.

Abstract

Several oxidative phosphorylation (OXPHOS) diseases are caused by defects in the post-transcriptional modification of mitochondrial tRNAs (mt-tRNAs). Mutations in MTO1 or GTPBP3 impair the modification of the wobble uridine at position 5 of the pyrimidine ring and cause heart failure. Mutations in TRMU affect modification at position 2 and cause liver disease. Presently, the molecular basis of the diseases and why mutations in the different genes lead to such different clinical symptoms is poorly understood. Here we use Caenorhabditis elegans as a model organism to investigate how defects in the TRMU, GTPBP3 and MTO1 orthologues (designated as mttu-1, mtcu-1, and mtcu-2, respectively) exert their effects. We found that whereas the inactivation of each C. elegans gene is associated with a mild OXPHOS dysfunction, mutations in mtcu-1 or mtcu-2 cause changes in the expression of metabolic and mitochondrial stress response genes that are quite different from those caused by mttu-1 mutations. Our data suggest that retrograde signaling promotes defect-specific metabolic reprogramming, which is able to rescue the OXPHOS dysfunction in the single mutants by stimulating the oxidative tricarboxylic acid cycle flux through complex II. This adaptive response, however, appears to be associated with a biological cost since the single mutant worms exhibit thermosensitivity and decreased fertility and, in the case of mttu-1, longer reproductive cycle. Notably, mttu-1 worms also exhibit increased lifespan. We further show that mtcu-1; mttu-1 and mtcu-2; mttu-1 double mutants display severe growth defects and sterility. The animal models presented here support the idea that the pathological states in humans may initially develop not as a direct consequence of a bioenergetic defect, but from the cell's maladaptive response to the hypomodification status of mt-tRNAs. Our work highlights the important association of the defect-specific metabolic rewiring with the pathological phenotype, which must be taken into consideration in exploring specific therapeutic interventions.

MeSH terms

  • Animals
  • Caenorhabditis elegans / genetics
  • Caenorhabditis elegans Proteins / genetics*
  • Carrier Proteins / genetics*
  • Cell Nucleolus / genetics
  • Disease Models, Animal
  • Electron Transport / genetics
  • GTP-Binding Proteins / genetics*
  • Gene Expression / genetics
  • Humans
  • Mitochondria / genetics*
  • Mitochondria / metabolism
  • Mitochondrial Diseases / genetics*
  • Mitochondrial Diseases / metabolism
  • Mitochondrial Proteins / genetics*
  • Mutation
  • Oxidative Phosphorylation
  • RNA, Transfer / genetics
  • RNA-Binding Proteins
  • Signal Transduction / genetics
  • tRNA Methyltransferases / genetics*

Substances

  • Caenorhabditis elegans Proteins
  • Carrier Proteins
  • MTCU-1 protein, C elegans
  • MTCU-2 protein, C elegans
  • MTO1 protein, human
  • Mitochondrial Proteins
  • RNA-Binding Proteins
  • RNA, Transfer
  • MTTU-1 protein, C elegans
  • tRNA Methyltransferases
  • TRMU protein, human
  • GTP-Binding Proteins
  • GTPBP3 protein, human

Grants and funding

This work has been supported by grants from the Spanish Ministry of Economy and Competitiveness (grant numbers BFU2010-19737 and BFU2014-58673-P) and Generalitat Valenciana (grant number PROMETEO/2012/061) to MEA. CNG was the recipient of a fellowship from the Spanish Ministry of Economy and Competitiveness (BES-2011-047037). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.