Heart failure after pressure overload in autosomal-dominant desminopathies: Lessons from heterozygous DES-p.R349P knock-in mice.

Autor: Florian Stöckigt, Lars Eichhorn, Thomas Beiert, Vincent Knappe, Tobias Radecke, Martin Steinmetz, Georg Nickenig, Viktoriya Peeva, Alexei P Kudin, Wolfram S Kunz, Carolin Berwanger, Lisa Kamm, Dorothea Schultheis, Ursula Schlötzer-Schrehardt, Christoph S Clemen, Rolf Schröder, Jan W Schrickel
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Zdroj: PLoS ONE, Vol 15, Iss 3, p e0228913 (2020)
Druh dokumentu: article
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0228913
Popis: BACKGROUND:Mutations in the human desmin gene (DES) cause autosomal-dominant and -recessive cardiomyopathies, leading to heart failure, arrhythmias, and AV blocks. We analyzed the effects of vascular pressure overload in a patient-mimicking p.R349P desmin knock-in mouse model that harbors the orthologue of the frequent human DES missense mutation p.R350P. METHODS AND RESULTS:Transverse aortic constriction (TAC) was performed on heterozygous (HET) DES-p.R349P mice and wild-type (WT) littermates. Echocardiography demonstrated reduced left ventricular ejection fraction in HET-TAC (WT-sham: 69.5 ± 2.9%, HET-sham: 64.5 ± 4.7%, WT-TAC: 63.5 ± 4.9%, HET-TAC: 55.7 ± 5.4%; p
Databáze: Directory of Open Access Journals
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