Reducing NADH-related stress in mitochondrial disease
Targeting NADH-Reductive Stress in Mitochondrial Disease
An injected engineered enzyme called LOXCAT aims to lower a harmful NADH-related imbalance in people with inherited mitochondrial disorders like Leigh syndrome.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Emory University NIH-funded |
| Lab location | 1 site (Atlanta, United States) |
| Project ID | NIH-11332292 on NIH RePORTER |
What this research studies
Mitochondrial diseases can raise the NADH/NAD+ ratio and block many vital biochemical reactions, causing muscle and brain problems. Researchers engineered a fusion enzyme, LOXCAT, that converts lactate into pyruvate to lower NADH-driven stress across tissues. They have given LOXCAT by IV in mice and are using animal models, biochemical measurements, and blood lactate/pyruvate testing to refine the approach and track effects on organs. The work is focused on creating a therapy that could reach multiple affected tissues in people with electron transport chain defects.
Who could benefit from this research
Good fit: People with diagnosed inherited mitochondrial ETC disorders (for example Leigh syndrome) and evidence of elevated lactate/pyruvate or related metabolic imbalance.
Not a fit: People whose symptoms come from non-ETC causes or whose disease has progressed to irreversible organ failure are less likely to benefit.
Why it matters
Potential benefit: If successful, this approach could reduce tissue damage and symptoms and offer a novel therapy for some inherited mitochondrial electron transport chain disorders.
How similar studies have performed: This LOXCAT approach is novel: early animal studies have shown it can lower blood lactate/pyruvate and NADH, but it has not yet been tested in people.
Where this research is happening
Atlanta, United States
- Emory University — Atlanta, United States (Active)
Researchers
- Principal investigator: Patgiri, Anupam — Emory University
- Study coordinator: Patgiri, Anupam
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.