Journal
JOURNAL OF BIOLOGICAL CHEMISTRY
Volume 294, Issue 14, Pages 5309-5320Publisher
AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
DOI: 10.1074/jbc.REV118.002953
Keywords
aminoacyl tRNA synthetase; mitochondria; genetic disease; central nervous system (CNS); mutant
Categories
Funding
- CNRS
- Universite de Strasbourg (UNISTRA)
- French National Program Investissement d'Avenir (Labex MitoCross) [ANR-11-LABX-0057_MITOCROSS]
- Carleton College
- Towsley Foundation
- LabEx MitoCross
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Mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs) are essential components of the mitochondrial translation machinery. The correlation of mitochondrial disorders with mutations in these enzymes has raised the interest of the scientific community over the past several years. Most surprising has been the wide-ranging presentation of clinical manifestations in patients with mt-aaRS mutations, despite the enzymes' common biochemical role. Even among cases where a common physiological system is affected, phenotypes, severity, and age of onset varies depending on which mt-aaRS is mutated. Here, we review work done thus far and propose a categorization of diseases based on tissue specificity that highlights emerging patterns. We further discuss multiple in vitro and in cellulo efforts to characterize the behavior of WT and mutant mt-aaRSs that have shaped hypotheses about the molecular causes of these pathologies. Much remains to do in order to complete our understanding of these proteins. We expect that futher work is likely to result in the discovery of new roles for the mt-aaRSs in addition to their fundamental function in mitochondrial translation, informing the development of treatment strategies and diagnoses.
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