The mitochondrial aminoacyl tRNA synthetases: Genes and syndromes

Research output: Contribution to journalArticle


Mitochondrial respiratory chain (RC) disorders are a group of genetically and clinically heterogeneous diseases. This is because protein components of the RC are encoded by both mitochondrial and nuclear genomes and are essential in all cells. In addition, the biogenesis and maintenance of mitochondria, including mitochondrial DNA (mtDNA) replication, transcription, and translation, require nuclear-encoded genes. In the past decade, a growing number of syndromes associated with dysfunction of mtDNA translation have been reported. This paper reviews the current knowledge of mutations affecting mitochondrial aminoacyl tRNAs synthetases and their role in the pathogenic mechanisms underlying the different clinical presentations.

Original languageEnglish
Article number787956
JournalInternational Journal of Cell Biology
Publication statusPublished - 2014

ASJC Scopus subject areas

  • Cell Biology

Fingerprint Dive into the research topics of 'The mitochondrial aminoacyl tRNA synthetases: Genes and syndromes'. Together they form a unique fingerprint.

  • Cite this