How dilated cardiomyopathy mutations change heart muscle myosin
Impact of dilated cardiomyopathy mutations on cardiac myosin structure and function
['FUNDING_R01'] · PENNSYLVANIA STATE UNIV HERSHEY MED CTR · NIH-11235942
Researchers will look at how inherited gene changes that cause dilated cardiomyopathy alter the structure and function of the heart’s myosin motor in people with inherited DCM.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | PENNSYLVANIA STATE UNIV HERSHEY MED CTR (nih funded) |
| Locations | 1 site (HERSHEY, UNITED STATES) |
| Trial ID | NIH-11235942 on ClinicalTrials.gov |
What this research studies
Researchers will examine human beta-cardiac myosin proteins that carry mutations linked to dilated cardiomyopathy to see how those changes alter myosin’s shape, ATP-driven movement, and ability to produce force. They will use biochemical and biophysical tests, such as ATPase activity measurements, structural imaging, and filament interaction assays, to compare mutated and normal myosin behavior. The team will study how mutations shift myosin between relaxed and active states and how that affects calcium sensitivity and cooperative activation of the thin filament. Findings will be used to explain how specific mutations weaken heart contraction and to guide development of therapies that restore myosin function.
Who could benefit from this research
Good fit: Ideal candidates would be people with inherited dilated cardiomyopathy, especially those known to carry mutations in the MYH7 (beta-cardiac myosin) gene.
Not a fit: People whose heart failure is due to non-genetic causes (for example ischemic heart disease) or to mutations in genes other than MYH7 may not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could reveal why certain gene mutations weaken heart contraction and identify targets for new treatments to improve heart function in people with inherited DCM.
How similar studies have performed: Related molecular studies of myosin mutations helped advance treatments for hypertrophic cardiomyopathy, but the effects of DCM-causing MYH7 mutations on human beta-cardiac myosin are less well understood and are being explored here.
Where this research is happening
HERSHEY, UNITED STATES
- PENNSYLVANIA STATE UNIV HERSHEY MED CTR — HERSHEY, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: YENGO, CHRISTOPHER M — PENNSYLVANIA STATE UNIV HERSHEY MED CTR
- Study coordinator: YENGO, CHRISTOPHER M
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.