tRNAs and aminoacyl-tRNA synthetases in human disease: a thematic series
Coordinating Editor: Karin Musier-Forsyth
Cover Figure: In performing their universal role in protein synthesis, aminoacyl-tRNA synthetases and their cognate tRNA substrates find each other specifically, like pieces of a puzzle. However, in recent years, the concept of beneficial mistranslation and expanded functions of tRNA synthetases and tRNAs are provoking fundamental questions in biology and creating challenging new puzzles to solve. This JBC Reviews Thematic Issue will explore how these essential components of the protein synthesis machinery may serve as useful genetic markers of human disease and provide new opportunities for treating cancer, neurodegeneration, retroviral infection, as well as mitochondrial- and microbial-based diseases. Artwork by Luciana Giono.
tRNAs and Aminoacyl-tRNA Synthetases in Human Disease: an introduction to the JBC Reviews thematic series
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 non-canonical 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 mTOR activity; DNA repair, splicing, 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 (CMT) 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.
Reviews in this Series: