ArticleHuman molecular genetics2013
Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency.
Article in Human molecular genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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33 citing papers in PubMed, 56 citations in OpenAlex.
- Anticodon nucleotide modifications affect translational tuning by the ribosomal CAR surface.bioRxiv : the preprint server for biology · 2026Article
- TRMU Confers Resistance of Melanoma Cells to Vemurafenib through Modulating Mitochondrial Activities.Journal of proteome research · 2025Article
- A New Perspective On Arterioectatic Spinal Angiopathy with a Reversible Pattern: Cause or Consequence?Clinical neuroradiology · 2025Article
- Mitochondrial diseases: from molecular mechanisms to therapeutic advances.Signal transduction and targeted therapy · 2025Review
- Pathological mutations promote proteolysis of mitochondrial tRNA-specific 2-thiouridylase 1 (MTU1) via mitochondrial caseinolytic peptidase (CLPP).Nucleic acids research · 2024Article
- Interactions of mitochondrial and skeletal muscle biology in mitochondrial myopathy.The Biochemical journal · 2023Review
- A novel splice variant of Elp3/Kat9 regulates mitochondrial tRNA modification and function.Scientific reports · 2022Article
- TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.Molecular genetics and metabolism · 2021Article
- Whole-exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature.Molecular genetics & genomic medicine · 2020Review
- Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.The EMBO journal · 2020Article
- Mitochondrial Dysfunction in Primary Ovarian Insufficiency.Endocrinology · 2019Review
- L-Cysteine supplementation prevents liver transplantation in a patient with TRMU deficiency.Molecular genetics and metabolism reports · 2019Article
- Deletion of Mtu1 (Trmu) in zebrafish revealed the essential role of tRNA modification in mitochondrial biogenesis and hearing function.Nucleic acids research · 2018Article
- Mitochondrial DNA transcription and translation: clinical syndromes.Essays in biochemistry · 2018Review
- Defects in the mitochondrial-tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARγ-UCP2-AMPK axis.Scientific reports · 2018Article
- The mitochondrial epitranscriptome: the roles of RNA modifications in mitochondrial translation and human disease.Cellular and molecular life sciences : CMLS · 2018Review
- Article
- Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation.The Journal of biological chemistry · 2017Article
- Towards the Prevention of Aminoglycoside-Related Hearing Loss.Frontiers in cellular neuroscience · 2017Review
- Mtu1-Mediated Thiouridine Formation of Mitochondrial tRNAs Is Required for Mitochondrial Translation and Is Involved in Reversible Infantile Liver Injury.PLoS genetics · 2016Article
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8 authors at 3 institutions in 3 countries.
Funding
Abstract
Childhood-onset mitochondrial encephalomyopathies are severe, relentlessly progressive conditions. However, reversible infantile respiratory chain deficiency (RIRCD), due to a homoplasmic mt-tRNA(Glu) mutation, and reversible infantile hepatopathy, due to tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency, stand out by showing spontaneous recovery, and provide the key to treatments of potential broader relevance. Modification of mt-tRNA(Glu) is a possible functional link between these two conditions, since TRMU is responsible for 2-thiouridylation of mt-tRNA(Glu), mt-tRNA(Lys) and mt-tRNA(Gln). Here we show that down-regulation of TRMU in RIRCD impairs 2-thiouridylation and exacerbates the effect of the mt-tRNA(Glu) mutation by triggering a mitochondrial translation defect in vitro. Skeletal muscle of RIRCD patients in the symptomatic phase showed significantly reduced 2-thiouridylation. Supplementation with l-cysteine, which is required for optimal TRMU function, rescued respiratory chain enzyme activities in human cell lines of patients with RIRCD as well as deficient TRMU. Our results show that l-cysteine supplementation is a potential treatment for RIRCD and for TRMU deficiency, and is likely to have broader application for the growing group of intra-mitochondrial translation disorders.
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