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Arch Iran Med. 2018;21(10):478-485.
PMID: 30415557
Scopus id: 85056309418
  Abstract View: 617
  PDF Download: 329

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tRNA Methyltransferase Defects and Intellectual Disability 

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. 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.
Keywords: Intellectual disability, Methylation, tRNA methyltransferase, tRNA modification
Cite this article as: Abedini SS, Kahrizi K, de Pouplana LR; Najmabadi H. tRNA methyltransferase defects and intellectual disability. Arch Iran Med. 2018;21(10):478–485.
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Submitted: 04 Jan 2018
Accepted: 30 May 2018
First published online: 01 Oct 2018
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