Arrhythmias & electrophysiologyMechanistic study
CALM1 , CALM2 , and CALM3 expression and translation efficiency provide insight into the severity of calmodulinopathy
- Mechanistic study
Authors' conclusion
Compared with CALM1 and CALM2, CALM3 is under less negative selection and missense variant carriers are less prone to cardiac events.
Study context
- Population
- Calmodulinopathy: Genotype-Tissue Expression (GTEx) expression data, left-ventricle ribosome profiling, Genome Aggregation Database (gnomAD) and International Calmodulinopathy Registry missense variant carriersregistry carriers
- Participants
- 52 / 53 / 35
- Comparison
- CALM1 vs CALM2 vs CALM3
- CALM1n = 52
- CALM2n = 53
- CALM3n = 35
Main finding
As reported in the abstract
Relative contribution of each gene to calmodulin: share of calmodulin-coding mRNA (GTEx) and of translation into calmodulin protein (LV ribosome profiling)
Share of calmodulin-coding mRNA
Share of translation into calmodulin protein (LV)
- mRNA share: CALM2 higher than CALM1 and CALM3
- P < 2 × 10-16
- Translation into calmodulin protein significantly different among CALM1, CALM2 and CALM3
- P < 2 × 10-16
Further findings
Carriers experiencing cardiac events (International Calmodulinopathy Registry)
- Carriers experiencing cardiac events (International Calmodulinopathy Registry) — Difference among genes
- P = 0.004
Original publication
CALM1 , CALM2 , and CALM3 expression and translation efficiency provide insight into the severity of calmodulinopathy. Europace. Published 18 March 2026. doi:10.1093/europace/euag052
Summarised from the published abstract; every number is checked against it