Becker, Lore ORCID: 0000-0002-6890-4984, Kling, Eva, Schiller, Evelyn, Zeh, Ramona, Schrewe, Anja, Hoelter, Sabine M., Mossbrugger, Ilona, Calzada-Wack, Julia, Strecker, Valentina, Wittig, Ilka, Dumitru, Iulia, Wenz, Tina, Bender, Andreas ORCID: 0000-0002-6328-7104, Aichler, Michaela, Janik, Dirk, Neff, Frauke, Walch, Axel ORCID: 0000-0001-5578-4023, Quintanilla-Fend, Leticia, Floss, Thomas, Bekeredjian, Raffi, Gailus-Durner, Valerie, Fuchs, Helmut, Wurst, Wolfgang ORCID: 0000-0003-4422-7410, Meitinger, Thomas ORCID: 0000-0002-8838-8403, Prokisch, Holger ORCID: 0000-0003-2379-6286, de Angelis, Martin Hrabe ORCID: 0000-0002-7898-2353 and Klopstock, Thomas (2014). MTO1-Deficient Mouse Model Mirrors the Human Phenotype Showing Complex I Defect and Cardiomyopathy. PLoS One, 9 (12). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

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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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Becker, LoreUNSPECIFIEDorcid.org/0000-0002-6890-4984UNSPECIFIED
Kling, EvaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schiller, EvelynUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zeh, RamonaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schrewe, AnjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoelter, Sabine M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mossbrugger, IlonaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Calzada-Wack, JuliaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Strecker, ValentinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wittig, IlkaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dumitru, IuliaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wenz, TinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bender, AndreasUNSPECIFIEDorcid.org/0000-0002-6328-7104UNSPECIFIED
Aichler, MichaelaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Janik, DirkUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Neff, FraukeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Walch, AxelUNSPECIFIEDorcid.org/0000-0001-5578-4023UNSPECIFIED
Quintanilla-Fend, LeticiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Floss, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bekeredjian, RaffiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gailus-Durner, ValerieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fuchs, HelmutUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wurst, WolfgangUNSPECIFIEDorcid.org/0000-0003-4422-7410UNSPECIFIED
Meitinger, ThomasUNSPECIFIEDorcid.org/0000-0002-8838-8403UNSPECIFIED
Prokisch, HolgerUNSPECIFIEDorcid.org/0000-0003-2379-6286UNSPECIFIED
de Angelis, Martin HrabeUNSPECIFIEDorcid.org/0000-0002-7898-2353UNSPECIFIED
Klopstock, ThomasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-420252
DOI: 10.1371/journal.pone.0114918
Journal or Publication Title: PLoS One
Volume: 9
Number: 12
Date: 2014
Publisher: PUBLIC LIBRARY SCIENCE
Place of Publication: SAN FRANCISCO
ISSN: 1932-6203
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
MITOCHONDRIAL TRANSCRIPTION FACTOR; RESPIRATORY-CHAIN DEFICIENCY; OXIDATIVE-PHOSPHORYLATION; DISEASE; RNA; TRANSLATION; MUTATIONS; CELLS; GENE; QUANTIFICATIONMultiple languages
Multidisciplinary SciencesMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/42025

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