Animal models to understand mitochondrial DNA diseases
Modeling mtDNA Disease in vivo
Researchers are creating animal models that copy human mitochondrial DNA changes to help people with mitochondrial disorders.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Texas at Austin NIH-funded |
| Lab location | 1 site (Austin, United States) |
| Project ID | NIH-11193787 on NIH RePORTER |
What this research studies
This project will use new mitochondrial DNA base-editing tools to make living animal models that carry the same mtDNA changes seen in patients. The team plans to deliver these editors in vivo (for example in zebrafish and other animals) to produce high levels of the intended edits across tissues. By studying how those edits affect organs like the brain, heart, muscle, and kidney, researchers hope to link specific mtDNA mutations to disease signs and symptoms. The generated models will also be shared as resources for testing future treatments.
Who could benefit from this research
Good fit: People with confirmed mitochondrial DNA mutations or a clinical diagnosis of a mitochondrial disorder are the group most likely to benefit from advances stemming from this project.
Not a fit: People whose conditions are unrelated to mitochondrial DNA changes, or whose disease is caused only by non-mitochondrial (nuclear) genes, are unlikely to see direct benefit from this research.
Why it matters
Potential benefit: If successful, the work could speed development of therapies and improve understanding and diagnosis for people with mitochondrial DNA disorders.
How similar studies have performed: Recent cell and early animal work with mtDNA base editors has shown promise, but achieving consistent, high-efficiency editing across whole animals remains a newer challenge.
Where this research is happening
Austin, United States
- University of Texas at Austin — Austin, United States (Active)
Researchers
- Principal investigator: Ekker, Stephen Carl — University of Texas at Austin
- Study coordinator: Ekker, Stephen Carl
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.