Sex and Gene Influence Arrhythmia Susceptibility in Murine Models of Calmodulinopathy.

ABSTRACT:

Background

Pathogenic variants in genes encoding CaM (calmodulin) are associated with a life-threatening ventricular arrhythmia syndrome (calmodulinopathy). The in vivo consequences of CaM variants have not been studied extensively and there is incomplete understanding of the genotype-phenotype relationship for recurrent variants. We investigated effects of different factors on calmodulinopathy phenotypes using 2 mouse models with a recurrent pathogenic variant (N98S) in Calm1 or Calm2.

Methods

Genetically engineered mice with heterozygous N98S pathogenic variants in Calm1 or Calm2 were generated. Differences between the sexes and affected genes were assessed using multiple physiological assays at the cellular and whole animal levels. Statistical

SUBMITTER: Wren LM 

PROVIDER: S-EPMC10530303 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature