First MTATP6 mitochondrial disease mouse model and AAV-based gene therapy approach
Official title: First murine animal model and adeno-associated virus (AAV)-based gene therapy for MTATP6 mitochondrial diseases
Funded at Univ of Massachusetts Med Sch Worcester · NIH-11370017 · Data updated 2026-11-12
A new grant aims to create a mouse model of MTATP6 mitochondrial disease and test an AAV-based gene therapy approach to treat it.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of Massachusetts Med Sch Worcester NIH-funded |
| Lab location | 1 site (Worcester, United States) |
| Project start | August 1, 2024 |
| Project end | June 30, 2027 |
| Funding year | 2026 |
| Award (this year) | $241,357 |
| NIH project number | 5R00HD109359-05 |
| Project ID | NIH-11370017 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with MTATP6-related mitochondrial disease or other neurological mitochondrial disorders could benefit from future gene therapy advances developed through this line of research.
✕Less likely to help
Healthy individuals or patients with non-MTATP6 mitochondrial conditions may not directly benefit from this research.
What this research studies
This project plans to develop the first mouse model of MTATP6-related mitochondrial disease using innovative mitochondria-targeting base editing. The team will explore allotopic expression of MTATP6, delivering a functional copy to the nucleus and guiding the protein to mitochondria. They will use this model to test AAV-based gene therapy strategies and evaluate safety and efficacy in vivo. The training-focused grant supports the investigator’s long-term plan to bring gene therapy options to patients with neurological mitochondrial diseases.
Why it matters
Potential benefit: If successful, the work could lead to a viable gene therapy approach for MTATP6-related mitochondrial diseases, potentially slowing or preventing disease progression in patients.
How similar studies have gone: Previous work with SURF1-related Leigh syndrome shows promise for AAV-based gene therapy; MTATP6 work is a novel extension.
Where this research is happening
-
Univ of Massachusetts Med Sch Worcester
Worcester, United States Active
Researchers
- Principal investigator: Ling, Qinglan — Univ of Massachusetts Med Sch Worcester
- Study coordinator: Ling, Qinglan
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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.