Loss of Mitochondrial Ca2+ Uniporter Limits Inotropic Reserve and Provides Trigger and Substrate for Arrhythmias in Barth Syndrome Cardiomyopathy
2021 | journal article; research paper
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Loss of Mitochondrial Ca2+ Uniporter Limits Inotropic Reserve and Provides Trigger and Substrate for Arrhythmias in Barth Syndrome Cardiomyopathy
Bertero, E.; Nickel, A.; Kohlhaas, M.; Hohl, M.; Sequeira, V.; Brune, C. & Schwemmlein, J. et al. (2021)
Circulation, 144(21) pp. 1694-1713. DOI: https://doi.org/10.1161/CIRCULATIONAHA.121.053755
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Details
- Authors
- Bertero, Edoardo; Nickel, Alexander; Kohlhaas, Michael; Hohl, Mathias; Sequeira, Vasco; Brune, Carolin; Schwemmlein, Julia; Abeßer, Marco; Schuh, Kai; Kutschka, Ilona; Carlein, Christopher; Münker, Kai; Atighetchi, Sarah; Müller, Andreas; Kazakov, Andrey; Kappl, Reinhard; von der Malsburg, Karina; van der Laan, Martin; Schiuma, Anna-Florentine; Böhm, Michael; Laufs, Ulrich; Hoth, Markus; Rehling, Peter ; Kuhn, Michaela; Dudek, Jan; von der Malsburg, Alexander; Prates Roma, Leticia; Maack, Christoph
- Abstract
- Barth syndrome (BTHS) is caused by mutations of the gene encoding tafazzin, which catalyzes maturation of mitochondrial cardiolipin and often manifests with systolic dysfunction during early infancy. Beyond the first months of life, BTHS cardiomyopathy typically transitions to a phenotype of diastolic dysfunction with preserved ejection fraction, blunted contractile reserve during exercise, and arrhythmic vulnerability. Previous studies traced BTHS cardiomyopathy to mitochondrial formation of reactive oxygen species (ROS). Because mitochondrial function and ROS formation are regulated by excitation-contraction coupling, integrated analysis of mechano-energetic coupling is required to delineate the pathomechanisms of BTHS cardiomyopathy.
- Issue Date
- 2021
- Journal
- Circulation
- Project
- EXC 2067: Multiscale Bioimaging
SFB 1002: Modulatorische Einheiten bei Herzinsuffizienz
SFB 1002 | A06: Molekulare Grundlagen mitochondrialer Kardiomyopathien - Working Group
- RG Rehling (Mitochondrial Protein Biogenesis)
- ISSN
- 0009-7322
- eISSN
- 1524-4539
- Language
- English