Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes
Abstract
Inherited primary arrhythmia syndromes (IPAS) are genetic heart diseases associated with an elevated risk of sudden cardiac death, particularly in young individuals. Modelling these rare and serious conditions is essential to elucidate their mechanisms and to identify new treatments. Most genes involved in IPAS (e.g., congenital long‐QT syndrome, catecholaminergic polymorphic ventricular tachycardia, calcium‐release deficiency syndrome, Andersen‐Tawil syndrome, Timothy syndrome, calmodulinopathies, and short‐QT syndrome) are conserved in Caenorhabditis elegans , a model organism that offers powerful genetic tools for precise gene manipulation, including knock‐in, knock‐out, and knock‐down approaches. In vivo studies in C. elegans can be used to characterize the consequences of genetic variants (at molecular, cellular, tissue, and behavioural scales), to identify new regulatory proteins, and to perform drug testing. Here we summarize the characteristics of human IPAS and highlight the accumulating evidence that supports the utility of C. elegans as a simple yet powerful in vivo model for these diseases, capable of filling the gap between in vitro studies and complex transgenic animal models. image
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BibTeX
@article{deliniere2026caenorhabditis,
title = {{Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes}},
author = {Antoine Delinière and Thomas Boulin and Maëlle Jospin and Alexandre Janin and Gilles Millat and Philippe Chevalier and Olga Andrini},
journal = {The Journal of Physiology},
year = {2026},
month = oct,
doi = {10.1113/jp289661},
url = {https://hal.science/hal-05772793v1},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes
AU - Antoine Delinière
AU - Thomas Boulin
AU - Maëlle Jospin
AU - Alexandre Janin
AU - Gilles Millat
AU - Philippe Chevalier
AU - Olga Andrini
PY - 2026
DA - 2026/10/21
JO - The Journal of Physiology
DO - 10.1113/jp289661
UR - https://hal.science/hal-05772793v1
AB - Inherited primary arrhythmia syndromes (IPAS) are genetic heart diseases associated with an elevated risk of sudden cardiac death, particularly in young individuals. Modelling these rare and serious conditions is essential to elucidate their mechanisms and to identify new treatments. Most genes involved in IPAS (e.g., congenital long‐QT syndrome, catecholaminergic polymorphic ventricular tachycardia, calcium‐release deficiency syndrome, Andersen‐Tawil syndrome, Timothy syndrome, calmodulinopathies, and short‐QT syndrome) are conserved in Caenorhabditis elegans , a model organism that offers powerful genetic tools for precise gene manipulation, including knock‐in, knock‐out, and knock‐down approaches. In vivo studies in C. elegans can be used to characterize the consequences of genetic variants (at molecular, cellular, tissue, and behavioural scales), to identify new regulatory proteins, and to perform drug testing. Here we summarize the characteristics of human IPAS and highlight the accumulating evidence that supports the utility of C. elegans as a simple yet powerful in vivo model for these diseases, capable of filling the gap between in vitro studies and complex transgenic animal models. image
SN - 0022-3751
SN - 1469-7793
ER -