MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy.
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ABSTRACT:
SUBMITTER: Becker L
PROVIDER: S-EPMC4266617 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
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MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy.
Becker Lore L Kling Eva E Schiller Evelyn E Zeh Ramona R Schrewe Anja A Hölter Sabine M SM Mossbrugger Ilona I Calzada-Wack Julia J Strecker Valentina V Wittig Ilka I Dumitru Iulia I Wenz Tina T Bender Andreas A Aichler Michaela M Janik Dirk D Neff Frauke F Walch Axel A Quintanilla-Fend Leticia L Floss Thomas T Bekeredjian Raffi R Gailus-Durner Valérie V Fuchs Helmut H Wurst Wolfgang W Meitinger Thomas T Prokisch Holger H de Angelis Martin Hrabě MH Klopstock Thomas T
PloS one 20141215 12
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 ma ...[more]
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