Humanized Dsp ACM Mouse Model Displays Stress-Induced Cardiac Electrical and Structural Phenotypes.

ABSTRACT: Arrhythmogenic cardiomyopathy (ACM) is an inherited disorder characterized by fibro-fatty infiltration with an increased propensity for ventricular arrhythmias and sudden death. Genetic variants in desmosomal genes are associated with ACM. Incomplete penetrance is a common feature in ACM families, complicating the understanding of how external stressors contribute towards disease development. To analyze the dual role of genetics and external stressors on ACM progression, we developed one of the first mouse models of ACM that recapitulates a human variant by introducing the murine equivalent of the human R451G variant into endogenous desmoplakin (Dsp^R451G/+). Mice homozygous for this variant displayed embryonic lethality. While Dsp^R451G/+ mice were viable

SUBMITTER: Stevens TL 

PROVIDER: S-EPMC9562631 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature