How Calcium Dysregulation in Skeletal Muscle Affects Myotonic Dystrophy
Official title: Mechanism of Skeletal Muscle Calcium Dysregulation in Myotonic Dystrophy
Funded at University of Rochester · NIH-11357592 · Data updated 2026-11-12
This research looks at why skeletal muscles misbehave in myotonic dystrophy and how correcting calcium signaling might improve muscle strength and breathing.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Rochester NIH-funded |
| Lab location | 1 site (Rochester, United States) |
| Project start | August 8, 2022 |
| Project end | June 30, 2027 |
| Funding year | 2026 |
| Award (this year) | $442,639 |
| NIH project number | 5R01AR079424-05 |
| Project ID | NIH-11357592 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with myotonic dystrophy or related splicing defects, as well as individuals whose condition may be modeled by the study, could benefit from future translational advances.
✕Less likely to help
The immediate research is conducted in animal models and may not directly benefit participants in the near term.
What this research studies
Researchers at the University of Rochester are studying how muscles’ calcium control and excitability change in myotonic dystrophy. They use mouse models with human-like splicing defects to understand how specific protein changes disrupt muscle function, especially during development. The team will explore how these changes affect membrane activity, calcium balance, and muscle weakness, and test potential drug approaches that could help with myotonia and respiratory issues. Findings could point to new ways to relieve symptoms and improve quality of life for people with DM.
Why it matters
Potential benefit: If successful, the work could lead to therapies that improve muscle strength and breathing for people with myotonic dystrophy.
How similar studies have gone: Past studies using splicing-defect models have shown that targeting calcium channels can influence muscle function, supporting potential benefit of this approach.
Where this research is happening
-
University of Rochester
Rochester, United States Active
Researchers
- Principal investigator: Lueck, John D. — University of Rochester
- Study coordinator: Lueck, John D.
Related research
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Mechanisms of muscle disease in myotonic dystrophy type 1
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Extracellular vesicle biomarkers to monitor DM1 using urine and blood samples
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Biological factors that drive variability in myotonic dystrophy
This grant explores why myotonic dystrophy can look very different from person to person by studying its genetic changes and how they affect muscle in adults.
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.