How the body handles fats when mitochondria can't make enough energy
Relevance of fatty acid handling in the adaptive response to mitochondrial dysfunction
['FUNDING_R01'] · THOMAS JEFFERSON UNIVERSITY · NIH-11286854
This work tests whether muscle, liver, and heart change how they use fats to help people with mitochondrial disease keep making energy and reduce muscle stress.
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-11286854 on ClinicalTrials.gov |
What this research studies
From a patient perspective, researchers will look at how fatty acids are taken up, stored, and burned in muscle, liver, and heart when mitochondria cannot produce enough ATP. They will measure lipid levels, markers of cellular stress, and signaling molecules such as FGF21 to map how organs communicate during energy failure. The team will use laboratory models of mitochondrial myopathy and cellular and tissue experiments to trace organ-specific and whole-body metabolic changes. The goal is to reveal compensatory pathways that could be targeted to reduce lipid overload and support muscle energy use.
Who could benefit from this research
Good fit: People with primary mitochondrial disease, especially those with mitochondrial myopathy affecting skeletal muscle, are the group most likely to be relevant to these findings.
Not a fit: People without mitochondrial dysfunction or those with conditions unrelated to muscle energy metabolism are unlikely to gain direct benefit from this basic research.
Why it matters
Potential benefit: If successful, this work could point to ways to reduce harmful lipid buildup and improve muscle energy and function in people with mitochondrial disease.
How similar studies have performed: Previous research has shown elevated FGF21 in mitochondrial disease and suggested organ cross-talk, but using multi-organ fatty-acid handling as a therapeutic target is a relatively new approach.
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.