Understanding how mitochondrial diseases affect muscle metabolism
Metabolic remodeling of skeletal muscle in mitochondrial myopathies
['FUNDING_R01'] · WEILL MEDICAL COLL OF CORNELL UNIV · NIH-10817754
This study looks at how mitochondrial myopathies, which are genetic disorders that affect how your muscles produce energy, change the way your muscles work and can lead to muscle loss and fat buildup, with the goal of finding new treatment options by examining muscle samples from both mice and people.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | WEILL MEDICAL COLL OF CORNELL UNIV (nih funded) |
| Locations | 1 site (NEW YORK, UNITED STATES) |
| Trial ID | NIH-10817754 on ClinicalTrials.gov |
What this research studies
This research investigates the metabolic changes in skeletal muscle caused by mitochondrial myopathies, which are genetic disorders affecting energy production in cells. The study focuses on how these diseases lead to muscle wasting and lipid accumulation due to altered metabolic pathways. By examining muscle samples from both mouse models and human patients, the researchers aim to identify potential metabolic targets for future treatments. The approach includes analyzing how amino acids are utilized in energy production and how this process can be disrupted in affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with mitochondrial myopathies who experience muscle-related symptoms.
Not a fit: Patients with mitochondrial diseases that do not primarily affect muscle metabolism may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatment strategies for patients with mitochondrial myopathies, improving their muscle function and overall quality of life.
How similar studies have performed: Previous studies have shown promising results in understanding metabolic changes in mitochondrial diseases, suggesting that this research could build on established findings.
Where this research is happening
NEW YORK, UNITED STATES
- WEILL MEDICAL COLL OF CORNELL UNIV — NEW YORK, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: D'AURELIO, MARILENA — WEILL MEDICAL COLL OF CORNELL UNIV
- Study coordinator: D'AURELIO, MARILENA
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.