How faulty RNA splicing leads to dilated cardiomyopathy
Function, composition, and mechanism of RNA splicing factories in cardiomyopathy
['FUNDING_R01'] · UNIVERSITY OF SOUTHERN CALIFORNIA · NIH-11261528
This project looks at how abnormal RNA splicing structures in heart cells cause dilated cardiomyopathy and dangerous arrhythmias in adults.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF SOUTHERN CALIFORNIA (nih funded) |
| Locations | 1 site (Los Angeles, UNITED STATES) |
| Trial ID | NIH-11261528 on ClinicalTrials.gov |
What this research studies
Researchers will study a muscle-specific protein called RBM20 that helps organize RNA splicing in the cell nucleus and is linked to aggressive dilated cardiomyopathy. They will use lab-grown heart cells and molecular tools to see how RBM20 forms three-dimensional 'splicing factories' and how disrupting those structures changes how key heart genes are spliced. The team will examine effects on genes involved in calcium handling and electrical activity to explain arrhythmias and heart dysfunction. They will also test the physical properties and components that let RBM20 form these membraneless condensates.
Who could benefit from this research
Good fit: Adults with dilated cardiomyopathy caused by RBM20 mutations or adults who carry RBM20 variants would be the most directly relevant to this research.
Not a fit: People whose cardiomyopathy is caused by unrelated conditions, children, or those without RBM20-related changes are less likely to directly benefit from these findings.
Why it matters
Potential benefit: If successful, this work could reveal new targets to prevent or treat arrhythmias and heart failure in people with RBM20-related dilated cardiomyopathy.
How similar studies have performed: This builds on recent discoveries about RBM20 and 3D splicing hubs but uses new biophysical and cellular approaches and remains largely exploratory.
Where this research is happening
Los Angeles, UNITED STATES
- UNIVERSITY OF SOUTHERN CALIFORNIA — Los Angeles, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: MURRY, CHARLES E — UNIVERSITY OF SOUTHERN CALIFORNIA
- Study coordinator: MURRY, CHARLES E
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.