Investigating how mutations in skeletal muscle actin affect heart function in dilated cardiomyopathy
Official title: Multi-scale Analysis of the Role of Skeletal Muscle Actin Mutations in Dilated Cardiomyopathy
Funded at Johns Hopkins University · NIH-10863630 · Data updated 2026-11-12
This study is looking at how a specific change in a muscle protein might affect heart function in people with dilated cardiomyopathy, with the hope of finding better treatments for those living with this condition.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project start | July 1, 2024 |
| Project end | June 30, 2029 |
| Funding year | 2024 |
| Award (this year) | $171,811 |
| NIH project number | 1K08HL173569-01 |
| Project ID | NIH-10863630 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with dilated cardiomyopathy, particularly those with a known skeletal muscle actin mutation.
✕Less likely to help
Patients without dilated cardiomyopathy or those whose condition is unrelated to skeletal muscle actin mutations may not benefit from this research.
What this research studies
This research focuses on understanding the role of specific mutations in skeletal muscle actin that may contribute to dilated cardiomyopathy (DCM), a condition that can lead to heart failure. The study employs a variety of experimental techniques, including biochemical and biophysical methods, to explore how the R256H mutation impacts heart and skeletal muscle contractility. By examining the interaction of this mutation with actin-binding proteins, the research aims to uncover new mechanisms that could explain the progression of DCM in patients. Ultimately, the goal is to provide insights that could lead to improved treatments for individuals affected by this condition.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for patients with dilated cardiomyopathy, potentially improving heart function and patient outcomes.
How similar studies have gone: While the specific focus on skeletal muscle actin mutations in DCM is novel, similar research approaches have shown promise in understanding other genetic contributions to heart disease.
Where this research is happening
-
Johns Hopkins University
Baltimore, United States Active
Researchers
- Principal investigator: Garg, Ankit — Johns Hopkins University
- Study coordinator: Garg, Ankit
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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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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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.