Related Experiment Video
Updated: Jun 6, 2026
08:53
A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
Published on: September 15, 2021
RNA splicing and cardiovascular disease: a guide for cardiologists
Dakota R Hunt1,2, Shambhabi Chatterjee3, Leslie A Leinwand1,4
1BioFrontiers Institute, University of Colorado Boulder, 3415 Colorado Avenue, Boulder, CO 80303, USA.
European Heart Journal
|June 5, 2026
Summary
Alternative splicing (AS) creates protein diversity essential for heart development and function. Understanding AS in cardiovascular disease (CVD) offers new diagnostic biomarkers and therapeutic strategies for precision medicine.
Area of Science:
- Molecular Biology
- Cardiovascular Science
- Genomics
Background:
- Alternative splicing (AS) generates diverse protein isoforms from a single gene, crucial for biological complexity.
- Cardiac-enriched RNA-binding proteins orchestrate heart-specific splicing programs impacting development, function, and disease.
Purpose of the Study:
- To review the role of cardiac AS in development, electrophysiology, and cardiovascular disease (CVD).
- To explore diagnostic and prognostic opportunities from transcriptomics and circulating RNA biomarkers.
- To outline therapeutic strategies for modulating AS in CVD.
Main Methods:
- Review of existing literature on cardiac alternative splicing.
- Analysis of transcriptomic datasets (bulk, long-read, single-cell/nucleus).
- Integration of AS with proteomics and genomics data.
Main Results:
- AS is vital for the fetal-to-adult cardiac transition and regulates cardiac electrophysiology and excitation-contraction coupling.
- Distinct splicing signatures differentiate pathological and physiological cardiac hypertrophy.
- Transcriptomics and circulating RNAs offer diagnostic and prognostic potential for CVD.
Conclusions:
- Alternative splicing presents a tractable axis for precision cardiovascular medicine.
- Therapeutic strategies targeting AS, inspired by neuromuscular indications, hold promise for CVD.
- Mechanistic insights, biomarker development, and therapeutic innovation are key for advancing splice-targeting treatments in cardiology.
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