Understanding how myosin mutations lead to heart disease
Mechanochemistry of myosin mutations that cause cardiomyopathy
['FUNDING_R01'] · UNIVERSITY OF PENNSYLVANIA · NIH-10838564
This study looks at how changes in a protein called myosin can lead to heart problems like hypertrophic cardiomyopathy and dilated cardiomyopathy, and it hopes to help patients by finding better ways to treat these conditions based on their unique genetic makeup.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF PENNSYLVANIA (nih funded) |
| Locations | 1 site (PHILADELPHIA, UNITED STATES) |
| Trial ID | NIH-10838564 on ClinicalTrials.gov |
What this research studies
This research investigates the molecular mechanisms by which mutations in the myosin protein contribute to heart diseases such as hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). By examining how these mutations affect the protein's function, including its ability to produce force and contract, the study aims to clarify the relationship between genetic changes and heart muscle performance. Patients with these conditions may benefit from insights that could lead to improved treatments or management strategies based on their specific genetic profiles.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with hypertrophic or dilated cardiomyopathy, particularly those with known genetic mutations in the myosin protein.
Not a fit: Patients without a diagnosis of hypertrophic or dilated cardiomyopathy or those whose conditions are unrelated to myosin mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better-targeted therapies for patients with heart diseases caused by myosin mutations.
How similar studies have performed: Previous research has shown promising results in understanding the genetic basis of cardiomyopathies, suggesting that this approach could yield valuable insights.
Where this research is happening
PHILADELPHIA, UNITED STATES
- UNIVERSITY OF PENNSYLVANIA — PHILADELPHIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: OSTAP, E. MICHAEL — UNIVERSITY OF PENNSYLVANIA
- Study coordinator: OSTAP, E. MICHAEL
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.