ArticlePloS one2014
MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy.
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Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed, 29 citations in OpenAlex.
- Molecular pathogenesis and gene therapy-based intervention of GTPBP3-related mitochondrial disease.Nature communications · 2026Article
- Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.JACC. Basic to translational science · 2025Review
- Transfer RNA acetylation regulates in vivo mammalian stress signaling.Science advances · 2025Article
- Mitochondrial translation regulates terminal erythroid differentiation by maintaining iron homeostasis.Science advances · 2025Article
- Taurine hypomodification underlies mitochondrial tRNATrp-related genetic diseases.Nucleic acids research · 2024Article
- Transfer RNA acetylation regulates in vivo mammalian stress signaling.bioRxiv : the preprint server for biology · 2024Article
- Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis.Frontiers in cell and developmental biology · 2024Review
- Mitochondrial non-energetic function and embryonic cardiac development.Frontiers in cell and developmental biology · 2024Review
- The Profiles and Functions of RNA Editing Sites Associated with High-Altitude Adaptation in Goats.International journal of molecular sciences · 2023Article
- Comparative transcriptome and adaptive evolution analysis on the main liver and attaching liver of Pareuchiloglanis macrotrema.Journal of applied genetics · 2022Article
- Ablation of Mto1 in zebrafish exhibited hypertrophic cardiomyopathy manifested by mitochondrion RNA maturation deficiency.Nucleic acids research · 2021Article
- Recent advances in understanding the molecular genetic basis of mitochondrial disease.Journal of inherited metabolic disease · 2020Review
- The emerging role of immune dysfunction in mitochondrial diseases as a paradigm for understanding immunometabolism.Metabolism: clinical and experimental · 2018Review
- Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease.Nucleic acids research · 2018Article
- The genotypic and phenotypic spectrum of MTO1 deficiency.Molecular genetics and metabolism · 2018Article
- Selective downregulation of mitochondrial electron transport chain activity and increased oxidative stress in human atrial fibrillation.American journal of physiology. Heart and circulatory physiology · 2016Article
- TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies.American journal of human genetics · 2015Article
- Mitochondrial transcript maturation and its disorders.Journal of inherited metabolic disease · 2015Review
- MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention.Human molecular genetics · 2015Article
- Genetic family studies and prospective evaluation for multisystem involvement are needed in LHON patients.Romanian journal of ophthalmologyArticle
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Authors and funding
27 authors at 9 institutions in 1 country.
Lore BeckerDepartment of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany; German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany; Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany.
Eva KlingGerman Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany.
Evelyn SchillerDepartment of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany; German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany; Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany.
Ramona ZehDepartment of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany; German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany; Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany.
Anja SchreweGerman Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany; Department of Cardiology, University of Heidelberg, Heidelberg, Germany.
Sabine M HölterGerman Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany.
Ilona MossbruggerGerman Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany; Institute of Pathology, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany.
Julia Calzada-WackGerman Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany; Institute of Pathology, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany.
Valentina StreckerFunctional Proteomics, Goethe-University Frankfurt, Frankfurt am Main, Germany.
Ilka WittigFunctional Proteomics, Goethe-University Frankfurt, Frankfurt am Main, Germany; German Network for Mitochondrial Disorders (mitoNET), Munich, Germany.
Iulia DumitruInstitute for Genetics, University of Cologne, Cologne, Germany.
Tina WenzInstitute for Genetics, University of Cologne, Cologne, Germany; German Network for Mitochondrial Disorders (mitoNET), Munich, Germany.
Andreas BenderDepartment of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany.
Michaela AichlerResearch Unit Analytical Pathology - Institute of Pathology, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany.
Dirk JanikGerman Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany; Institute of Pathology, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany.
Frauke NeffGerman Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany; Institute of Pathology, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany.
Axel WalchResearch Unit Analytical Pathology - Institute of Pathology, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany.
Leticia Quintanilla-FendInstitute of Pathology, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany.
Thomas FlossInstitute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany.
Raffi BekeredjianGerman Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany; Department of Cardiology, University of Heidelberg, Heidelberg, Germany.
Valérie Gailus-DurnerGerman Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany; Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany.
Helmut FuchsGerman Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany; Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany.
Wolfgang WurstGerman Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany; Technical University Munich, Chair of Developmental Genetics, c/o Helmholtz Zentrum München, Neuherberg, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Max-Planck-Institute of Psychiatry, Munich, Germany; German Center for Vertigo and Balance Disorders, Munich, Germany.
Thomas MeitingerInstitute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany; Deutsches Forschungszentrum für Herz-Kreislauferkrankungen (DZHK), partner site Munich Heart Alliance, Munich, Germany; Institute of Human Genetics, Technical University Munich, Munich, Germany.
Holger ProkischInstitute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany; Institute of Human Genetics, Technical University Munich, Munich, Germany; German Network for Mitochondrial Disorders (mitoNET), Munich, Germany.
Martin Hrabě de AngelisGerman Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany; Institute of Experimental Genetics, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany; German Center for Vertigo and Balance Disorders, Munich, Germany; Chair of Experimental Genetics, Center of Life and Food Sciences Weihenstephan, Technical University Munich, Freising-Weihenstephan, Germany; German Center for Diabetes Research (DZD), Neuherberg, Germany.
Thomas KlopstockDepartment of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany; German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environment and Health, Neuherberg, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; German Center for Vertigo and Balance Disorders, Munich, Germany; German Network for Mitochondrial Disorders (mitoNET), Munich, Germany.
Helmholtz Zentrum München · DEFriedrich Baur Stiftung · DEGoethe University Frankfurt · DEHeidelberg University · DELudwig-Maximilians-Universität München · DEUniversity of Cologne · DEGerman Center for Neurodegenerative Diseases · DEHeinrich Heine University Düsseldorf · DETechnical University of Munich · DE
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recently, mutations in the mitochondrial translation optimization factor 1 gene (MTO1) were identified as causative in children with hypertrophic cardiomyopathy, lactic acidosis and respiratory chain defect. Here, we describe an MTO1-deficient mouse model generated by gene trap mutagenesis that mirrors the human phenotype remarkably well. As in patients, the most prominent signs and symptoms were cardiovascular and included bradycardia and cardiomyopathy. In addition, the mutant mice showed a marked worsening of arrhythmias during induction and reversal of anaesthesia. The detailed morphological and biochemical workup of murine hearts indicated that the myocardial damage was due to complex I deficiency and mitochondrial dysfunction. In contrast, neurological examination was largely normal in Mto1-deficient mice. A translational consequence of this mouse model may be to caution against anaesthesia-related cardiac arrhythmias which may be fatal in patients.
Indexed as
Gene Knockdown TechniquesAnimalsCardiomyopathiesCarrier ProteinsDisease Models, AnimalDNA, MitochondrialElectron Transport Complex IFemaleGene DosageGenes, MitochondrialHeartHumansMaleMiceMice, Inbred C57BLMice, KnockoutCarrier ProteinsDNA, MitochondrialElectron Transport Complex IMitochondrial ProteinsMto1 protein, mouseRNA-Binding Proteins
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