Genetic Animal Models for Arrhythmogenic Cardiomyopathy

Frontiers in Physiology
Brenda Gerull, Andreas Brodehl

Abstract

Arrhythmogenic cardiomyopathy has been clinically defined since the 1980s and causes right or biventricular cardiomyopathy associated with ventricular arrhythmia. Although it is a rare cardiac disease, it is responsible for a significant proportion of sudden cardiac deaths, especially in athletes. The majority of patients with arrhythmogenic cardiomyopathy carry one or more genetic variants in desmosomal genes. In the 1990s, several knockout mouse models of genes encoding for desmosomal proteins involved in cell-cell adhesion revealed for the first time embryonic lethality due to cardiac defects. Influenced by these initial discoveries in mice, arrhythmogenic cardiomyopathy received an increasing interest in human cardiovascular genetics, leading to the discovery of mutations initially in desmosomal genes and later on in more than 25 different genes. Of note, even in the clinic, routine genetic diagnostics are important for risk prediction of patients and their relatives with arrhythmogenic cardiomyopathy. Based on improvements in genetic animal engineering, different transgenic, knock-in, or cardiac-specific knockout animal models for desmosomal and nondesmosomal proteins have been generated, leading to important discoveries i...Continue Reading

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Citations

Jun 8, 2021·Frontiers in Cell and Developmental Biology·Suneeta NarumanchiJere Paavola
Sep 4, 2021·Current Heart Failure Reports·Brenda Gerull, Andreas Brodehl
Sep 23, 2021·Science Translational Medicine·Arwa KohelaEva van Rooij
Oct 12, 2021·Frontiers in Cell and Developmental Biology·Lisa MüllerRené Keil

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Methods Mentioned

BETA
transgenic
exome sequencing
targeted knockouts

Software Mentioned

CTNNA3

Related Concepts

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Arrhythmia

Arrhythmias are abnormalities in heart rhythms, which can be either too fast or too slow. They can result from abnormalities of the initiation of an impulse or impulse conduction or a combination of both. Here is the latest research on arrhythmias.

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