Using low-oxygen treatment to prevent and reverse Leigh syndrome
Preventing and Reversing Mitochondrial Leigh Syndrome with Hypoxia
Researchers are looking at whether breathing air with less oxygen or drugs that copy that effect can stop or reverse the brain damage caused by Leigh syndrome.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts General Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-11237153 on NIH RePORTER |
What this research studies
The team uses mouse models and lab-grown human cells to see how lower oxygen protects against mitochondrial failure that causes Leigh syndrome. They will apply single-cell genomics and proteomics to identify which cell types and proteins change under low-oxygen conditions. The project also uses mitochondrial DNA editing and mouse physiology experiments to test which molecular pathways are responsible. Finally, researchers will search for small-molecule drugs that mimic the protective effects of hypoxia in animals as a step toward human treatments.
Who could benefit from this research
Good fit: People with Leigh syndrome or related mitochondrial brain diseases would be the primary candidates for future clinical trials that follow from this work.
Not a fit: People whose neurological problems are not caused by mitochondrial defects or those with late-stage irreversible brain injury may not benefit from these approaches.
Why it matters
Potential benefit: If successful, this work could lead to treatments that stop or even reverse neurodegeneration in people with Leigh syndrome.
How similar studies have performed: Animal and cell studies, including a mouse model of Leigh syndrome, have shown that breathing low-oxygen can prevent and even reverse disease, but this approach has not yet been tested or proven safe in humans.
Where this research is happening
Boston, United States
- Massachusetts General Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Mootha, Vamsi Krishna — Massachusetts General Hospital
- Study coordinator: Mootha, Vamsi Krishna
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.