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International Journal of Cell Biology
Volume 2014, Article ID 787956, 11 pages
Review Article

The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute “C. Besta”, Via Temolo 4, 20126 Milan, Italy

Received 13 September 2013; Accepted 1 December 2013; Published 4 February 2014

Academic Editor: R. Seger

Copyright © 2014 Daria Diodato et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.