title: Role of tRNA modifications in human diseases.
abstract: Transfer RNAs (tRNAs) are key for efficient and accurate protein translation. To be fully active, tRNAs need to be heavily modified post-transcriptionally. Growing evidence indicates that tRNA modifications and the enzymes catalyzing such modifications may play important roles in complex human pathologies. Here, we have compiled current knowledge that directly link tRNA modifications to human diseases such as cancer, type 2 diabetes (T2D), neurological disorders, and mitochondrial-linked disorders. The molecular mechanisms behind these connections remain, for the most part, unknown. As we progress towards the understanding of the roles played by hypomodified tRNAs in human disease, novel areas of therapeutic intervention may be discovered.
authors.affiliation: Institute for Research in Biomedicine (IRB), Parc Cientific de Barcelona, 08028 Catalunya, Spain.
authors.forename: Adrian Gabriel
authors.initials: AG
authors.lastname: Torres
authors.affiliation: Institute for Research in Biomedicine (IRB), Parc Cientific de Barcelona, 08028 Catalunya, Spain; Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, 08010 Catalunya, Spain.
authors.forename: Eduard
authors.initials: E
authors.lastname: Batlle
authors.affiliation: Institute for Research in Biomedicine (IRB), Parc Cientific de Barcelona, 08028 Catalunya, Spain; Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, 08010 Catalunya, Spain. Electronic address: lluis.ribas@irbbarcelona.org.
authors.forename: Lluis
authors.initials: L
authors.lastname: Ribas de Pouplana
mesh_terms: D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D006801:Humans; D028361:Mitochondrial Diseases / Q000235:genetics; D058990:Molecular Targeted Therapy; D009369:Neoplasms / Q000235:genetics*; D009422:Nervous System Diseases / Q000235:genetics*; D012343:RNA, Transfer / Q000737:chemistry* / Q000502:physiology*
chemical_list: D012343:RNA, Transfer
keywords: cancer; human disease; neurological disorders; tRNA; tRNA modifications