TY  - JOUR
A1  - Becker, Lore
A1  - Kling, Eva
A1  - Schiller, Evelyn
A1  - Zeh, Ramona
A1  - Schrewe, Anja
A1  - Hölter, Sabine M.
A1  - Mossbrugger, Ilona
A1  - Calzada-Wack, Julia
A1  - Strecker, Valentina
A1  - Wittig, Ilka
A1  - Dumitru, Iulia
A1  - Wenz, Tina
A1  - Bender, Andreas
A1  - Aichler, Michaela
A1  - Janik, Dirk
A1  - Neff, Frauke
A1  - Walch, Axel
A1  - Quintanilla-Fend, Leticia
A1  - Floss, Thomas
A1  - Bekeredjian, Raffi
A1  - Gailus-Durner, Valérie
A1  - Fuchs, Helmut
A1  - Wurst, Wolfgang
A1  - Meitinger, Thomas
A1  - Prokisch, Holger
A1  - Hrabé de Angelis, Martin
A1  - Klopstock, Thomas
T1  - MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy
T2  - PLoS One
N2  - 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.
Y1  - 2014
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/36429
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-364294
SN  - 1932-6203
N1  - Copyright: © 2014 Becker et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License http://creativecommons.org/licenses/by/4.0/ , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
VL  - 9
IS  - (12):e114918
PB  - PLoS
CY  - Lawrence, Kan.
ER  -