Understanding how clathrin splicing affects muscle development in myotonic dystrophy type 1
Clathrin alternative splicing in skeletal muscle development
This study is looking at how changes in a specific protein affect muscle strength and development in people with myotonic dystrophy type 1, with the goal of finding new ways to help improve muscle function.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of North Carolina Chapel Hill NIH-funded |
| Lab location | 1 site (Chapel Hill, United States) |
| Project ID | NIH-11062349 on NIH RePORTER |
What this research studies
This research investigates the cellular and molecular mechanisms behind myotonic dystrophy type 1 (DM1), a condition characterized by progressive skeletal muscle weakness. It focuses on how the mis-regulation of clathrin heavy chain (Cltc) splicing impacts muscle function and development. By studying muscle samples from DM1 patients, the research aims to uncover the role of alternative splicing in muscle contractile function and identify potential pathways for therapeutic intervention. The approach includes examining the expression of protein isoforms and their effects on muscle maturation.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with myotonic dystrophy type 1, particularly those experiencing muscle weakness.
Not a fit: Patients without myotonic dystrophy type 1 or those with other unrelated muscle disorders may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for improving muscle function in patients with myotonic dystrophy type 1.
How similar studies have performed: Previous research has shown that targeting alternative splicing can lead to improvements in muscle function, indicating potential success for this approach.
Where this research is happening
Chapel Hill, United States
- Univ of North Carolina Chapel Hill — Chapel Hill, United States (Active)
Researchers
- Principal investigator: Cote, Jessica Leigh — Univ of North Carolina Chapel Hill
- Study coordinator: Cote, Jessica Leigh
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.