Myosin binding protein C variants and heart disease
Official title: Pathogenic mechanisms of myosin binding protein C missense variants within hypertrophic cardiomyopathy
Funded at University of Michigan at Ann Arbor · NIH-11377477 · Data updated 2026-11-12
A doctor-scientist at the University of Michigan is studying how certain genetic changes in a heart protein (MYBPC3) cause hypertrophic cardiomyopathy and whether fixing the protein or its interactions could help people with this condition.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Michigan at Ann Arbor NIH-funded |
| Lab location | 1 site (Ann Arbor, United States) |
| Project start | July 1, 2022 |
| Project end | June 30, 2027 |
| Funding year | 2026 |
| Award (this year) | $167,400 |
| NIH project number | 5K08HL163328-05 |
| Project ID | NIH-11377477 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with hypertrophic cardiomyopathy caused by MYBPC3 variants, especially those carrying the R502W variant, could be relevant future participants.
✕Less likely to help
People without HCM or without MYBPC3 involvement are unlikely to benefit.
What this research studies
Hypertrophic cardiomyopathy (HCM) is a genetic heart condition that can lead to heart failure and dangerous rhythms. This project focuses on missense changes in MYBPC3, which are often hard to interpret, to understand how they disrupt protein binding in heart muscle. The team will use affinity mass spectrometry to study binding changes, and will develop a patient-derived cellular model plus a mouse model of the common R502W variant. If successful, the work may show that restoring normal MYBPC3 function could reverse disease features. The study aims to translate molecular insights into possible future therapies for people with HCM caused by MYBPC3 variants.
Why it matters
Potential benefit: This research could pave the way for targeted therapies that restore normal heart protein function and improve outcomes for people with this genetic form of HCM.
How similar studies have gone: Previous studies suggest that correcting protein interactions can influence disease features, but human-variant–specific strategies are still emerging.
Where this research is happening
-
University of Michigan at Ann Arbor
Ann Arbor, United States Active
Researchers
- Principal investigator: Thompson, Andrea Dooley — University of Michigan at Ann Arbor
- Study coordinator: Thompson, Andrea Dooley
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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.