• Seyedeh Sedigheh Abedini, Kimia Kahrizi, Lluis Ribas de Pouplana, and Hossein Najmabadi.
• Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
• Arch Iran Med. 2018 Oct 1; 21 (10): 478485478-485.

AbstractIn 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.© 2018 The Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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