Understanding how certain genetic changes in a heart protein cause hypertrophic cardiomyopathy
Pathogenic mechanisms of myosin binding protein C missense variants within hypertrophic cardiomyopathy
This study is looking into how certain genetic changes in a heart protein might cause hypertrophic cardiomyopathy (HCM) and whether new treatments can help fix these issues, so it's especially for people with HCM who want to understand more about their 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 ID | NIH-10896913 on NIH RePORTER |
What this research studies
This research investigates the genetic causes of hypertrophic cardiomyopathy (HCM), a heart condition that can lead to serious complications like heart failure and arrhythmias. The focus is on specific genetic variants in the myosin binding protein C3 (MYBPC3) that may disrupt normal heart function. By using advanced techniques like affinity mass spectrometry and creating cellular and animal models, the research aims to determine how these genetic changes affect protein interactions and whether they can be reversed with targeted therapies.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with hypertrophic cardiomyopathy, particularly those with specific MYBPC3 genetic variants.
Not a fit: Patients without hypertrophic cardiomyopathy or those with different underlying genetic causes may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better genetic screening and targeted treatments for patients with hypertrophic cardiomyopathy.
How similar studies have performed: Previous research has shown promise in understanding genetic variants in heart diseases, suggesting that this approach could yield valuable insights.
Where this research is happening
Ann Arbor, United States
- 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
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.