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Malignant cardiac phenotype after pressure overload in autosomal-dominant desminopathies: Lessons from heterozygous R349P desmin knock-in mice

Stöckigt, Florian and Eichhorn, Lars and Beiert, Thomas and Knappe, Vincent and Radecke, Tobias and Steinmetz, Martin and Berwanger, Carolin and Nickenig, Georg and Peeva, Viktoriya and Kudin, Alexei P. and Kunz, Wolfram S. and Clemen, Christoph S. and Schröder, Rolf and Schrickel, Jan W. (2019) Malignant cardiac phenotype after pressure overload in autosomal-dominant desminopathies: Lessons from heterozygous R349P desmin knock-in mice. In: NEUROMUSCULAR DISORDERS, 29 (1), pp. 63-64. Elsevier. 24th International Annual Congress of the World Muscle Society, 1 – 5 October 2019, Kopenhagen, Denmark. doi: 10.1016/j.nmd.2019.06.108.

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Abstract

Mutations of the human desmin gene on chromosome 2q35 cause autosomal-dominant and -recessive myopathies and ardiomyopathies. For pathophysiological and therapeutic studies, we generated a R349P desmin knock-in mouse strain, which serves as patient-mimicking disease model for desminopathies. Here, we investigated the influence of pressure overload on cardiac function in heterozygous R349P desmin knock-in mice. Young, non-operated heterozygous R349P desmin knock-in mice do not show obvious signs of cardiomyopathy. When subjected to pressure overload by TAC operation, these mice develop marked signs of cardiomyopathy with accompanying arrhythmias and atrioventricular blocks. The cardiac disease manifestations are associated with reductions in mitochondrial respiratory chain complex activities and mitochondrial DNA copy numbers. Preventive avoidance of pressure overload, i.e. arterial hypertension, to the heart may thus represent a crucial therapeutic measure. Heterozygous R349P desmin knock-in mice and their wild-type siblings were used. Transverse aortic constriction (TAC) operation was performed to induce pressure overload. Cardiac function was analyzed by left heart catheterization, electrophysiological investigation, and echocardiography. Moreover, mitochondrial respiratory complex activities, mtDNA copy number, and mtDNA integrity were investigated.

Item URL in elib:https://elib.dlr.de/185694/
Document Type:Conference or Workshop Item (Poster)
Title:Malignant cardiac phenotype after pressure overload in autosomal-dominant desminopathies: Lessons from heterozygous R349P desmin knock-in mice
Authors:
AuthorsInstitution or Email of AuthorsAuthor's ORCID iD
Stöckigt, FlorianDepartment of Cardiology, University Hospital Bonn, Bonn, Germanyhttps://orcid.org/0000-0002-0885-679X
Eichhorn, LarsDepartment of Anesthesiology, University Hospital Bonn, Bonn, GermanyUNSPECIFIED
Beiert, ThomasDepartment of Cardiology, University Hospital Bonn, Bonn, GermanyUNSPECIFIED
Knappe, VincentDepartment of Cardiology, University Hospital Bonn, Bonn, GermanyUNSPECIFIED
Radecke, TobiasDepartment of Cardiology, University Hospital Essen, Hufelandstraße, Essen, GermanyUNSPECIFIED
Steinmetz, MartinDepartment of Cardiology, University Hospital Essen, Hufelandstraße, Essen, GermanyUNSPECIFIED
Berwanger, CarolinCarolin.Berwanger (at) dlr.deUNSPECIFIED
Nickenig, GeorgDepartment of Cardiology, University Hospital Bonn, Bonn, GermanyUNSPECIFIED
Peeva, ViktoriyaInstitute of Experimental Epileptology and Cognition Research, Bonn, GermanyUNSPECIFIED
Kudin, Alexei P.Institute of Experimental Epileptology and Cognition Research, Bonn, GermanyUNSPECIFIED
Kunz, Wolfram S.Institute of Experimental Epileptology and Cognition Research, Bonn, GermanyUNSPECIFIED
Clemen, Christoph S.Institute of Aerospace Medicine, German Aerospace Center (DLR), 51147 Cologne, Germanyhttps://orcid.org/0000-0002-1291-4219
Schröder, RolfInstitute of Neuropathology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nu¨rnberg, Schwabachanlage, Erlangen, GermanyUNSPECIFIED
Schrickel, Jan W.Department of Cardiology, University Hospital Bonn, Bonn, GermanyUNSPECIFIED
Date:October 2019
Journal or Publication Title:NEUROMUSCULAR DISORDERS
Refereed publication:Yes
Open Access:No
Gold Open Access:No
In SCOPUS:No
In ISI Web of Science:Yes
Volume:29
DOI:10.1016/j.nmd.2019.06.108
Page Range:pp. 63-64
Publisher:Elsevier
Status:Published
Keywords:autosomal-dominant; desminopathie; R349P desmin knock-in mice
Event Title:24th International Annual Congress of the World Muscle Society
Event Location:Kopenhagen, Denmark
Event Type:international Conference
Event Dates:1 – 5 October 2019
Organizer:European Reference Network
HGF - Research field:Aeronautics, Space and Transport
HGF - Program:Space
HGF - Program Themes:Research under Space Conditions
DLR - Research area:Raumfahrt
DLR - Program:R FR - Research under Space Conditions
DLR - Research theme (Project):R - Muscle Mechanics and Metabolism
Location: Köln-Porz
Institutes and Institutions:Institute of Aerospace Medicine > Muscle and Bone Metabolism
Deposited By: Becker, Christine
Deposited On:11 Apr 2022 09:54
Last Modified:14 Apr 2022 11:46

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