Aminoacyl-tRNA synthetases and tRNAs in human disease: an introduction to the JBC Reviews thematic series

The Journal of Biological Chemistry
Karin Musier-Forsyth

Abstract

Aminoacyl-tRNA synthetases (ARSs) catalyze the attachment of specific amino acids to cognate tRNAs for use in protein synthesis. This historical function of ARSs and tRNAs is fairly well understood. However, ARSs and tRNAs also perform noncanonical functions that are continuing to be unveiled at a rapid pace. The expanded functions of these essential molecules of life range from roles in retroviral replication to stimulation of mammalian target of rapamycin (mTOR) activity; DNA repair, splicing, and transcriptional and translational regulation; and other aspects of cellular homeostasis. Furthermore, mutations in tRNAs and synthetases are known to drive human maladies, such as the neurodegenerative disorder Charcot-Marie-Tooth disease along with other central nervous system dysfunctions and cancer. This series of reviews focuses on the diseases that result from natural variations in human cytoplasmic tRNAs, as well as from mutations in mitochondrial tRNAs and ARSs. Ultimately, the exciting work in this rapidly emerging area may lead to new therapies for microbial and parasitic infections, cancer, and neurodegenerative diseases.

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Citations

Aug 21, 2020·The Journal of Biological Chemistry·Charlotta PregerHelena Persson
Oct 22, 2020·Liver International : Official Journal of the International Association for the Study of the Liver·Ruyi ZhangQiuwei Pan
Jan 8, 2021·Frontiers in Genetics·Shuxia ZhangYoufa Zhou

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