Seyedeh Sedigheh Abedini
1, Kimia Kahrizi
1, Lluis Ribas de Pouplana
2,3*, Hossein Najmabadi
1,4*1 Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
2 Gene Translation Laboratory, Institute for Research in Biomedicine (IRB Barcelona), the Barcelona Institute of Science and Technology, Barcelona, Catalonia, Spain
3 Catalan Institution for Research and Advanced Studies (ICREA), Passeig Lluis Companys 23, BarceloCatalan Institution for Research and Advanced Studies (ICREA), Passeig Lluis Companys 23, Barcelona, Spainna, Spain
4 Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran
*Corresponding Authors: Prof. Lluis Ribas de Pouplana, Gene Translation Lab, Institute for Research in Biomedicine (IRB Barcelona), Barcelona Science Park, Baldiri Reixach, 15, 08028 Barcelona. Tel: +34 934034868; Fax: +34 934034870; Email: , Email:
Lluis.ribas@irbbarcelona.org; *Corresponding Authors: Prof. Hossein Najmabadi, Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Koodakyar St, Daneshjoo Blvd, Evin, Tehran 1985713834, Iran. Telefax: + 98-2122180138; Email:, Email:
hnajm12@yahoo.com
Abstract
In all organisms, transfer RNA (tRNA) molecules are required to undergo post-transcriptional modifications at different levels in
order to convert into mature tRNAs. These modifications are critical for many aspects of tRNA function and structure, such as
translational efficiency, flexibility, codon–anticodon interaction, stability, and fidelity. Up to now, over 100 modified nucleosides
have been identified in tRNAs from all domains of life. Post-transcriptional modifications include different chemical processes
such as methylation, deamination, or acetylation, with methylation reactions as the most common. tRNA methyltransferases are a
family of enzymes involved in the post-transcriptional methylation of tRNA bases. Recent studies have reported different human
diseases resulting from defects in tRNA methyltransferase activity, including cancer, diabetes and neurological disorders such
as intellectual disability (ID). In this article, we focused on biological function and characterization of tRNA methyltransferases
associated with ID in order to explain how functional disruption of tRNA methyltransferases could lead to ID phenotype.