A novel compound heterozygous mutation of the MTO1 gene associated with complex oxidative phosphorylation deficiency type 10

Luo, Qin; Wen, Xin; Zhou, Jiahong; Yang, Chen; Lv, Zhiyu; Shen, Xinghai; Liu, Jinbo

doi:10.1016/j.cca.2021.09.014

Cited by 1 publication

(1 citation statement)

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“…One of these modifying enzymes, mitochondrial translation optimization protein 1 (MTO1), has been identified in patients with cardiomyopathy, lactic acidosis, developmental delay and combined or isolated respiratory chain deficiency (Ghezzi et al, 2012;Baruffini et al, 2013;Charif et al, 2015;Martín et al, 2017;Kamps et al, 2018;O'Byrne et al, 2018;Li et al, 2019;Seo et al, 2019;Luo et al, 2021;Zhou et al, 2022;Monda et al, 2023). MTO1 synthesizes the taurinomethyl (τm5U) modification of the anticodon of mitochondrial tRNA Leu , tRNA Trp , tRNA Lys , tRNA Gln and tRNA Glu , which is essential for the accurate decoding of their corresponding codons (Suzuki et al, 2002;Suzuki and Suzuki, 2014).…”

Section: Mutations In Trnas and Trna Modifying Enzymesmentioning

confidence: 99%

Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis

Antolínez-Fernández,

Esteban-Ramos,

Fernández-Moreno

et al. 2024

Front. Cell Dev. Biol.

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Mitochondria play a central role in cellular metabolism producing the necessary ATP through oxidative phosphorylation. As a remnant of their prokaryotic past, mitochondria contain their own genome, which encodes 13 subunits of the oxidative phosphorylation system, as well as the tRNAs and rRNAs necessary for their translation in the organelle. Mitochondrial protein synthesis depends on the import of a vast array of nuclear-encoded proteins including the mitochondrial ribosome protein components, translation factors, aminoacyl-tRNA synthetases or assembly factors among others. Cryo-EM studies have improved our understanding of the composition of the mitochondrial ribosome and the factors required for mitochondrial protein synthesis and the advances in next-generation sequencing techniques have allowed for the identification of a growing number of genes involved in mitochondrial pathologies with a defective translation. These disorders are often multisystemic, affecting those tissues with a higher energy demand, and often present with neurodegenerative phenotypes. In this article, we review the known proteins required for mitochondrial translation, the disorders that derive from a defective mitochondrial protein synthesis and the animal models that have been established for their study.

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