Investigating how mutations in skeletal muscle actin affect heart function in dilated cardiomyopathy
Multi-scale Analysis of the Role of Skeletal Muscle Actin Mutations in Dilated Cardiomyopathy
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 ID | NIH-10863630 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with dilated cardiomyopathy, particularly those with a known skeletal muscle actin mutation.
Not a fit: Patients without dilated cardiomyopathy or those whose condition is unrelated to skeletal muscle actin mutations may not benefit from this research.
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 performed: 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
Baltimore, United States
- Johns Hopkins University — Baltimore, United States (Active)
Researchers
- Principal investigator: Garg, Ankit — Johns Hopkins University
- Study coordinator: Garg, Ankit
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.