How a mitochondrial calcium channel may drive muscle weakness in mitochondrial disease
Relevance of mitochondrial calcium uniporter for mitochondrial myopathy
['FUNDING_R01'] · THOMAS JEFFERSON UNIVERSITY · NIH-11175369
This work looks at whether changes in a mitochondrial calcium channel contribute to muscle weakness and poor exercise tolerance in people with mitochondrial myopathy.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | THOMAS JEFFERSON UNIVERSITY (nih funded) |
| Locations | 1 site (PHILADELPHIA, UNITED STATES) |
| Trial ID | NIH-11175369 on ClinicalTrials.gov |
What this research studies
The team uses mouse models that mimic human mitochondrial myopathy and laboratory experiments to study a mitochondrial calcium channel called the MCUC and how much calcium mitochondria take up. They are examining how increased mitochondrial calcium uptake links to mitochondrial dysfunction, cell stress responses (like ER stress and the Integrated Stress Response), muscle atrophy, and reduced exercise capacity. Researchers will test whether changing MCUC activity or related pathways alters disease features in animals and cells. The goal is to reveal mechanisms that could be relevant to patients and guide future therapy development or clinical studies.
Who could benefit from this research
Good fit: People with diagnosed primary mitochondrial disease who experience skeletal muscle weakness, atrophy, or exercise intolerance are the most relevant group.
Not a fit: Patients whose muscle problems arise from non-mitochondrial causes or whose disease primarily affects non-skeletal organs may not directly benefit from this work.
Why it matters
Potential benefit: If successful, this work could point to new targets to prevent muscle loss and improve strength and exercise tolerance in people with mitochondrial myopathy.
How similar studies have performed: Some prior lab studies link mitochondrial calcium handling and the permeability transition pore to cell death, but using MCUC modulation specifically to treat mitochondrial myopathy is largely novel with limited prior clinical testing.
Where this research is happening
PHILADELPHIA, UNITED STATES
- THOMAS JEFFERSON UNIVERSITY — PHILADELPHIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: SEIFERT, ERIN — THOMAS JEFFERSON UNIVERSITY
- Study coordinator: SEIFERT, ERIN
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.