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Review
, 2014, 787956

The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes

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Review

The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes

Daria Diodato et al. Int J Cell Biol.

Abstract

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.

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References

    1. Taylor RW, Turnbull DM. Mitochondrial DNA mutations in human disease. Nature Reviews Genetics. 2005;6(5):389–402. - PMC - PubMed
    1. Ghezzi D, Zeviani M. Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiology. Advances in Experimental Medicine and Biology. 2012;748:65–106. - PubMed
    1. Smits P, Smeitink J, van den Heuvel L. Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies. Journal of Biomedicine and Biotechnology. 2010;2010:24 pages.737385 - PMC - PubMed
    1. Watanabe K. Unique features of animal mitochondrial translation systems: the non-universal genetic code, unusual features of the translational apparatus and their relevance to human mitochondrial diseases. Proceedings of the Japan Academy Series B. 2010;86(1):11–39. - PMC - PubMed
    1. Liu M, Spremulli L. Interaction of mammalian mitochondrial ribosomes with the inner membrane. Journal of Biological Chemistry. 2000;275(38):29400–29406. - PubMed
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