How muscles are damaged in myotonic dystrophy type 1
Mechanisms of Skeletal Muscle Pathogenesis in Myotonic Dystrophy Type 1
This project will uncover how abnormal RNA and protein changes cause muscle weakness and wasting in people with myotonic dystrophy type 1.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Baylor College of Medicine NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project ID | NIH-11164817 on NIH RePORTER |
What this research studies
Researchers are studying DM1, a genetic condition where an expanded repeat in the DMPK gene makes toxic RNA that traps important muscle proteins and disrupts normal muscle development. The team combines experiments in lab-grown cells and mouse genetic models with studies of human blood and tissue samples to follow how these RNA and protein changes harm muscle. They are especially focused on why the CELF1 protein becomes too abundant in affected muscle and how that contributes to disease. Findings will map the step-by-step changes that lead to muscle wasting and point to molecular targets for future treatments.
Who could benefit from this research
Good fit: Adults with genetically confirmed myotonic dystrophy type 1 who are willing to provide blood or muscle samples or participate in related clinical sample collections would be the best fit.
Not a fit: People without DM1 or those seeking immediate clinical treatments are unlikely to gain direct benefits from this basic-mechanism research.
Why it matters
Potential benefit: If successful, this work could point to new ways to prevent or reverse muscle weakness in people with DM1 by targeting the molecular steps that cause damage.
How similar studies have performed: Previous studies have shown that fixing MBNL-related splicing problems can improve symptoms in models, but the specific causes of CELF1 upregulation in muscle remain a newer and less-tested area.
Where this research is happening
Houston, United States
- Baylor College of Medicine — Houston, United States (Active)
Researchers
- Principal investigator: Cooper, Thomas a — Baylor College of Medicine
- Study coordinator: Cooper, Thomas a
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.