Arrhythmias & electrophysiology
Inositol 1,4,5-Trisphosphate Receptor 1 Gain-of-Function Increases the Risk for Cardiac Arrhythmias in Mice and Humans
Authors' conclusion
Our studies in mice and humans reveal that enhanced function of ITPR1, a well-known movement disorder gene, increases the risk for cardiac arrhythmias.
Study context
- Population
- Human ITPR1 missense variants from open databases; ITPR1 gain-of-function (GOF) mutant mice; UK Biobank33 ITPR1 variants characterized
- Outcome
- ITPR1 GOF variants and stress-induced ventricular arrhythmia susceptibility
Methodological detailsmouse model, in vitro functional characterization, UK Biobank gene-based association
- Mouse model
- In vitro functional characterization
- UK Biobank gene-based association
Main finding
As reported in the abstract
Human ITPR1 missense variants characterised; GOF variants identified
21 of 33
Rare ITPR1 missense variants with potential association with cardiac arrhythmias (UK Biobank), all GOF in vitro
7
Original publication
Inositol 1,4,5-Trisphosphate Receptor 1 Gain-of-Function Increases the Risk for Cardiac Arrhythmias in Mice and Humans. Circulation. Published 10 December 2024. doi:10.
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