How ATP synthase (Complex V) problems affect human cells
Biochemical and Physiological Phenotypes of CV Dysfunction In Human Cell Models
They are developing a lab test using patients' cells to measure how well ATP synthase works for people with suspected genetic defects that cause strokes, neuropathy, balance problems, vision loss, or heart issues.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11330428 on NIH RePORTER |
What this research studies
If you or a family member have a suspected ATP synthase (Complex V) gene change, researchers will grow your cells (for example skin fibroblasts or engineered cell lines) to study the enzyme's performance. They will measure ATP production under conditions that force cells to make more energy, because resting ATP levels can appear normal even when the enzyme cannot meet higher demand. By testing many different patient-derived variants, the team aims to connect measurable biochemical weaknesses with specific genetic changes so clinicians can classify which variants are harmful. This work focuses on lab-based human cell tests rather than testing treatments in people, and participants may be asked to provide a blood or skin sample for analysis.
Who could benefit from this research
Good fit: Individuals with known or suspected genetic variants in ATP synthase/Complex V—especially those with strokes, neuropathy, ataxia, retinopathy, or cardiomyopathy—who can provide a skin biopsy or blood sample are ideal candidates.
Not a fit: People without ATP synthase gene changes, those whose symptoms are due to non-mitochondrial causes, or those seeking immediate therapeutic benefit should not expect direct clinical benefit from this project.
Why it matters
Potential benefit: If successful, this could help doctors determine which ATP synthase gene variants cause disease and improve diagnosis and management for people with Complex V disorders.
How similar studies have performed: Previous work showed that resting ATP levels can be misleading and that ATP synthesis capacity can be reduced, but a standardized clinical test for Complex V function is currently novel and not yet available.
Where this research is happening
Philadelphia, United States
- Children's Hosp of Philadelphia — Philadelphia, United States (Active)
Researchers
- Principal investigator: Ganetzky, Rebecca — Children's Hosp of Philadelphia
- Study coordinator: Ganetzky, Rebecca
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.