Disease models of mitochondrial aminoacyl-tRNA synthetase defects.

Henna Tyynismaa

Journal of inherited metabolic disease 2023 Sep

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Mitochondrial aminoacyl-tRNA synthetases (mtARS) are enzymes critical for the first step of mitochondrial protein synthesis by charging mitochondrial tRNAs with their cognate amino acids. Pathogenic variants in all 19 nuclear mtARS genes are now recognized as causing recessive mitochondrial diseases. Most mtARS disorders affect the nervous system, but the phenotypes range from multisystem diseases to tissue-specific manifestations. However, the mechanisms behind the tissue specificities are poorly understood, and challenges remain in obtaining accurate disease models for developing and testing treatments. Here, some of the currently existing disease models that have increased our understanding of mtARS defects are discussed. © 2023 The Author. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.