FXR1's role in muscle health and Duchenne muscular dystrophy
Deciphering the roles of FXR1 in health and myopathy
Researchers are looking at whether restoring the protein FXR1 can improve heart and skeletal muscle strength in people with Duchenne muscular dystrophy and related myopathies.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11146436 on NIH RePORTER |
What this research studies
This work studies how the RNA-binding protein FXR1 controls molecules that keep heart and skeletal muscle working properly. Scientists use human muscle cells and multiple animal models (mouse, dog, pig) to see how low FXR1 contributes to muscle weakness and heart problems. They test whether bringing FXR1 levels back up improves muscle structure, the contraction machinery, and related proteins such as utrophin. Results will help decide if FXR1-targeted approaches could lead to new treatments for Duchenne and other genetic myopathies.
Who could benefit from this research
Good fit: Ideal candidates are people with Duchenne muscular dystrophy or related genetic muscle disorders who might donate tissue or cells or be considered for future FXR1-based therapies.
Not a fit: Patients whose muscle disease is not linked to FXR1 pathways, or who have very advanced irreversible muscle damage, may not benefit from this work.
Why it matters
Potential benefit: If successful, restoring FXR1 could slow muscle degeneration and improve cardiac and skeletal muscle function in people with Duchenne muscular dystrophy.
How similar studies have performed: Early animal studies, including several mouse models of Duchenne muscular dystrophy, showed structural and functional improvement after restoring FXR1, but benefits in people remain unproven.
Where this research is happening
New York, United States
- Icahn School of Medicine at Mount Sinai — New York, United States (Active)
Researchers
- Principal investigator: Gregorio, Carol C — Icahn School of Medicine at Mount Sinai
- Study coordinator: Gregorio, Carol C
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.