In eukaryotic cells, mitochondria perform the essential function of producing cellular energy in the form of ATP via the oxidative phosphorylation system. This system is composed of 5 multimeric protein complexes of which 13 protein subunits are encoded by the mitochondrial genome: Complex I (7 subunits), Complex III (1 subunit), Complex IV (3 subunits), and Complex V (2 subunits). Effective mitochondrial translation is necessary to produce the protein subunits encoded by the mitochondrial genome (mtDNA). Defects in mitochondrial translation are known to cause a wide variety of clinical disease in humans with high-energy consuming organs generally most prominently affected. Here, we review several classes of disease resulting from defective mitochondrial translation including disorders with mitochondrial tRNA mutations, mitochondrial aminoacyl-tRNA synthetase disorders, mitochondrial rRNA mutations, and mitochondrial ribosomal protein disorders.

Original languageEnglish
Pages (from-to)71-80
Number of pages10
JournalJournal of Translational Genetics and Genomics
StatePublished - 2020


  • Mitochondria
  • aminoacyl-tRNA synthetase
  • mitochondrial disease
  • mtDNA
  • rRNA
  • ribosomal protein
  • tRNA
  • translation defect


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