How MYBPC3 gene changes lead to thickened heart muscle (hypertrophic cardiomyopathy)
Official title: Missense Variants in Myosin Binding Protein C that Cause Hypertrophic Cardiomyopathy
Funded at University of Pennsylvania · NIH-11193969 · Data updated 2026-11-12
This project looks at how specific changes in the MYBPC3 gene disturb heart muscle proteins in people with hypertrophic cardiomyopathy to point toward better treatments.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | September 1, 2023 |
| Project end | August 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $703,074 |
| NIH project number | 5R01HL167524-03 |
| Project ID | NIH-11193969 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with hypertrophic cardiomyopathy who have a known MYBPC3 missense variant—especially variants in the C3 or C6 regions—would be most relevant to this work.
✕Less likely to help
People whose HCM is caused by other genes or non-genetic causes, or those without a MYBPC3 variant, are less likely to directly benefit from these specific findings.
What this research studies
From my perspective as a patient, researchers are focusing on certain MYBPC3 missense changes that cluster in parts of the protein called C3 and C6. They will use a proximity-labeling technique (TurboID) to map which proteins sit near the normal versus mutant MyBP-C and compare the differences. The team will then study how those altered interactions change myosin shape, local protein production, and how damaged proteins are removed. The goal is to connect those molecular changes to how the heart becomes abnormally thick and rhythm problems develop so new therapies can be designed.
Why it matters
Potential benefit: If successful, this work could reveal targets for drugs or improve how we predict and manage disease in people with MYBPC3 variants.
How similar studies have gone: Prior genetic and protein studies have linked MYBPC3 to HCM, but applying TurboID proximity labeling to map altered protein interactions is a relatively new approach with promising but not yet proven clinical translation.
Where this research is happening
-
University of Pennsylvania
Philadelphia, United States Active
Researchers
- Principal investigator: Day, Sharlene M — University of Pennsylvania
- Study coordinator: Day, Sharlene M
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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.