How dilated cardiomyopathy mutations change heart muscle myosin
Official title: Impact of dilated cardiomyopathy mutations on cardiac myosin structure and function
Funded at Pennsylvania State Univ Hershey Med Ctr · NIH-11235942 · Data updated 2026-11-12
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
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Pennsylvania State Univ Hershey Med Ctr NIH-funded |
| Lab location | 1 site (Hershey, United States) |
| Project start | December 15, 2022 |
| Project end | November 30, 2026 |
| Funding year | 2026 |
| Award (this year) | $667,828 |
| NIH project number | 5R01HL163585-04 |
| Project ID | NIH-11235942 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates would be people with inherited dilated cardiomyopathy, especially those known to carry mutations in the MYH7 (beta-cardiac myosin) gene.
✕Less likely to help
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.
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.
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 gone: 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
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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
Related research
Other NIH-funded projects on the same topics.
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Discovery of rare genetic variants linked to dilated cardiomyopathy using big biobank data
A large-scale genetic study will look for rare gene variants that affect dilated cardiomyopathy to improve how we diagnose and manage the condition.
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Understanding how muscle ribosome mutations cause severe neonatal dilated cardiomyopathy and ways to treat it
This grant focuses on a rare genetic heart condition in newborns caused by mutations in a muscle-specific ribosomal protein, with hopes to find new ways to diagnose and treat it.
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Unlocking how rare genetic changes cause dilated cardiomyopathy
A large study will look at genetic data from many people to understand which rare variants affect dilated cardiomyopathy and how this changes risk and treatment.
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Role of Lmod2 in heart muscle and dilated cardiomyopathy
This NIH grant explores how a heart-specific protein (Lmod2) helps heart cells contract properly and how its problems can cause dilated cardiomyopathy in infants and children.
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Targeting DNA Damage Pathways in LMNA-Related Heart Disease
A study to understand how damaged DNA and inflammatory signals contribute to dilated cardiomyopathy caused by LMNA mutations and explore therapies that can protect the heart.
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Using miRNA to find new treatment paths for dilated cardiomyopathy
Researchers are studying heart-muscle disease (dilated cardiomyopathy) to discover miRNA-based clues that could lead to targeted therapies for patients.
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.