Skeletal muscle actin mutations and heart disease: understanding how a specific mutation affects heart function
Official title: Multi-scale Analysis of the Role of Skeletal Muscle Actin Mutations in Dilated Cardiomyopathy
Funded at Johns Hopkins University · NIH-11364131 · Data updated 2026-11-12
A physician-scientist at Johns Hopkins is studying how a skeletal muscle protein mutation (ACTA1 R256H) affects heart muscle function to help people with dilated cardiomyopathy.
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 | 2026 |
| Award (this year) | $171,811 |
| NIH project number | 5K08HL173569-03 |
| Project ID | NIH-11364131 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with dilated cardiomyopathy linked to ACTA1-related mutations or who carry the R256H variant may benefit from future therapies emerging from this research.
✕Less likely to help
Individuals without ACTA1 mutations or those whose condition is not driven by actin-related mechanisms may not benefit from this specific research.
What this research studies
Over five years, the researcher will use biochemical, biophysical, and animal studies to uncover how the ACTA1 R256H mutation alters heart muscle contraction. The plan includes developing and using advanced methods to measure how actin and its binding partners affect heart stiffness and pumping. The work aims to move the investigator toward independence while training with mentors and clinical-science experts. Findings could illuminate why some patients with this mutation progress to heart failure and suggest targeted approaches to improve heart function.
Why it matters
Potential benefit: Better understanding of a specific genetic cause of dilated cardiomyopathy could lead to new strategies to protect heart function in affected patients.
How similar studies have gone: Previous work has shown that actin mutations can alter muscle contraction; this study builds on that by focusing on a human-relevant mutational mechanism in the heart.
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
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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.