Journal
MOLECULAR GENETICS AND METABOLISM
Volume 108, Issue 4, Pages 206-211Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2013.01.010
Keywords
Mitochondria; Mitochondrial disease; Aminoacyl-tRNA synthetases
Funding
- Academy of Finland, Sigrid Juselius Foundation
- University of Helsinki
- Arvo and Lea Ylppo Foundation
- Orion Farmos Research Foundation and Centre for International Mobility for research
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Mitochondrial aminoacyl-tRNA synthetases (mtARSs) are essential in the process of transferring genetic information from mitochondrial DNA to the complexes of the oxidative phosphorylation system. These synthetases perform an integral step in the initiation of mitochondrial protein synthesis by charging tRNAs with their cognate amino acids. All mtARSs are encoded by nuclear genes, nine of which have recently been described as disease genes for mitochondrial disorders. Unexpectedly, the clinical presentations of these diseases are highly specific to the affected synthetase. Encephalopathy is the most common manifestation but again with gene-specific outcomes. Other clinical presentations include myopathy with anemia, cardiomyopathy, tubulopathy and hearing loss with female ovarian dysgenesis. Here we review the described mutation types and the associated patient phenotypes. The identified mutation spectrum suggests that only mutation types that allow some residual tRNA-charging activity can result in the described mtARS diseases but the molecular mechanisms behind the selective tissue involvement are not currently understood. (C) 2013 Elsevier Inc. All rights reserved.
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