Understanding how mitochondrial calcium affects muscle diseases
Official title: Relevance of mitochondrial calcium uniporter for mitochondrial myopathy
Funded at Thomas Jefferson University · NIH-10917030 · Data updated 2026-11-12
This study is looking at how a specific protein in our cells affects muscle weakness in people with mitochondrial myopathy, and it hopes to find new ways to help improve muscle function and exercise ability for those affected.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Thomas Jefferson University NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | September 1, 2023 |
| Project end | August 31, 2027 |
| Funding year | 2024 |
| Award (this year) | $411,840 |
| NIH project number | 5R01GM146116-02 |
| Project ID | NIH-10917030 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with mitochondrial myopathy or related muscle disorders.
✕Less likely to help
Patients with muscle diseases not related to mitochondrial dysfunction may not benefit from this research.
What this research studies
This research investigates the role of the mitochondrial calcium uniporter (MCUC) in mitochondrial myopathy, a condition that severely impacts skeletal muscle function. By using mouse models, the study aims to understand how mitochondrial dysfunction leads to muscle weakness and reduced exercise capacity. The researchers will explore cellular adaptations and stress responses that occur in muscle cells due to mitochondrial issues, focusing on how calcium uptake by mitochondria may contribute to disease progression. Patients may benefit from insights that could lead to new therapeutic strategies targeting mitochondrial function.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that improve muscle strength and exercise capacity in patients with mitochondrial myopathy.
How similar studies have gone: While the role of mitochondrial dysfunction in muscle diseases has been studied, the specific focus on the mitochondrial calcium uniporter is a novel approach that has not been extensively tested.
Where this research is happening
-
Thomas Jefferson University
Philadelphia, United States Active
Researchers
- Principal investigator: Seifert, Erin — Thomas Jefferson University
- Study coordinator: Seifert, Erin
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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.