Thin-filament heart muscle disease: causes and ways to block it
PATHOGENESIS AND IN VIVO SUPPRESSION OF THIN FILAMENT-BASED CARDIOMYOPATHIES
This project looks at how small changes in heart muscle proteins cause inherited cardiomyopathy and seeks ways to stop those changes from damaging the heart.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project ID | NIH-11242014 on NIH RePORTER |
What this research studies
From a patient's view, researchers will trace how tiny chemical changes and inherited mutations in the thin-filament proteins of heart muscle alter how the heart contracts. They will use fruit flies and mice engineered to carry human protein changes, watch heart function with high-speed imaging, and examine protein structures with cryo-electron microscopy. Computer models and mechanical tests of purified proteins will link molecular changes to tissue-level heart problems. The team aims to find molecular points where interventions could prevent or reduce muscle damage.
Who could benefit from this research
Good fit: People with inherited cardiomyopathies linked to thin-filament proteins (for example, actin or troponin mutations) would be the most relevant patient group.
Not a fit: Patients whose heart disease is caused by unrelated factors (like coronary artery disease or hypertension) are unlikely to benefit directly from this grant's findings.
Why it matters
Potential benefit: If successful, this work could identify molecular targets for new treatments that prevent or lessen cardiomyopathy caused by thin-filament protein changes.
How similar studies have performed: Prior laboratory and animal studies have mapped many thin-filament defects and helped explain some cardiomyopathies, but this integrative approach using human actin variants in flies together with cryo-EM and mouse models is relatively novel.
Where this research is happening
Baltimore, United States
- Johns Hopkins University — Baltimore, United States (Active)
Researchers
- Principal investigator: Cammarato, Anthony — Johns Hopkins University
- Study coordinator: Cammarato, Anthony
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.