MTFMT mouse model to understand mitochondrial translation and Leigh syndrome
Official title: Mitochondrial Methionyl-tRNA Formyltransferase (MTFMT) Mouse Model to elucidate Mitochondrial Translation initiation Defect and Disease Mechanisms in Leigh Syndrome
Funded at Arizona State University-Tempe Campus · NIH-11505637 · Data updated 2026-11-12
A new mouse model helps scientists study how mutations in MTFMT affect mitochondrial protein production and contribute to Leigh syndrome.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Arizona State University-Tempe Campus NIH-funded |
| Lab location | 1 site (Scottsdale, United States) |
| Project start | January 1, 2026 |
| Project end | July 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $443,927 |
| NIH project number | 7R21NS145159-02 |
| Project ID | NIH-11505637 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with Leigh syndrome or related mitochondrial disorders caused by MTFMT mutations or similar mitochondrial translation defects.
✕Less likely to help
Direct benefits may be limited to the experimental model; human therapies would require further clinical development.
What this research studies
Researchers created a transgenic mouse that carries the human MTFMT exon 4 mutation to mimic the disease process seen in Leigh syndrome. The model shows reduced MTFMT protein, lower activity of energy-producing mitochondrial complexes, and features that resemble human disease, enabling closer study of how the mutation disrupts mitochondrial translation. The project aims to uncover the mechanisms linking MTFMT defects to disease and to test potential therapeutic ideas in a living organism. This work moves us toward translating basic findings into ways to prevent or treat mitochondrial disorders.
Why it matters
Potential benefit: This work could illuminate disease mechanisms and pave the way for targeted therapies for Leigh syndrome linked to MTFMT mutations.
How similar studies have gone: Other disease models of mitochondrial translation defects have helped clarify pathogenesis and informed therapeutic strategies, suggesting this approach is promising.
Where this research is happening
-
Arizona State University-Tempe Campus
Scottsdale, United States Active
Researchers
- Principal investigator: Rangasamy, Sampathkumar — Arizona State University-Tempe Campus
- Study coordinator: Rangasamy, Sampathkumar
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.