Affiliation:
1. Stem Cells and Metabolism Research Program, Faculty of Medicine University of Helsinki Helsinki Finland
Abstract
AbstractMitochondrial 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.
Subject
Genetics (clinical),Genetics
Cited by
3 articles.
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