Abstract

Mutations in mitochondrial DNA are an important cause of human disease and from a therapeutic standpoint, these disorders are currently untreatable. New studies now show that a non-cognate mitochondrial aminoacyl tRNA synthetase can overcome the respiratory defect caused by an mt-tRNA mutation and that the isolated carboxy-terminal domain of human mt-leucyl tRNA synthetase can ameliorate the pathologic phenotype.See also: HT Hornig-Do et al (February 2014) and E Perli et al (February 2014)

Highlights

  • Mutations in mitochondrial DNA are an important cause of human disease and from a therapeutic standpoint, these disorders are currently untreatable

  • The tRNA genes cover

  • Pathogenic mutations in mt-tRNAs typically interfere directly with cellular ATP production, because the tRNAs are part of the organellar translation system devoted to the synthesis of the 13 subunits of the oxidative phosphorylation (OXPHOS) complexes that are encoded by mtDNA

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Summary

Introduction

Mutations in mitochondrial DNA are an important cause of human disease and from a therapeutic standpoint, these disorders are currently untreatable. Several examples exist where the expression level of the cognate aaRS modulates the effect of the mitochondrial tRNA mutation, in both yeast and human cell models: for example, mtLeuRS suppressed a tRNALeu mutation in human cells (Park et al, 2008) and a female with a pathogenic tRNAIle mutation remained clinically unaffected because she had a naturally higher expression level of mtIleRS (Perli et al, 2012).

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