Human calmodulin mutations cause arrhythmia and affect neuronal function in C. elegans.

ABSTRACT: In humans, mutations in calmodulin cause cardiac arrhythmia. These mutations disrupt the ability of calmodulin to sense calcium concentrations and correctly regulate two central calcium channels, together obstructing heart rhythm. This correlation is well established, but also surprising since calmodulin is expressed in all tissues and interacts with hundreds of proteins. Until now, most studies have focused on cardiac cell function and regulation of specific cardiac targets, and thus, potential other effects of these mutations have largely been unexplored. Here, we introduce the nematode Caenorhabditis elegans as an in vivo model to study effects of three human calmodulin mutations with different impairment on calcium binding. We find that arrhythmic effects of the calmodulin mutations N5

SUBMITTER: Jensen HH 

PROVIDER: S-EPMC10244212 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature