DYT1 Dystonia: Mouse Models to Understand TorsinA and Brain Circuits
Official title: Pathophysiology of DYT1 dystonia: Targeted Mouse Models
Funded at University of Florida · NIH-11399135 · Data updated 2026-11-12
A researcher-led project uses mouse models to explore how a genetic change in DYT1 dystonia affects brain circuits and movement.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Florida NIH-funded |
| Lab location | 1 site (Gainesville, United States) |
| Project start | September 28, 2022 |
| Project end | August 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $367,646 |
| NIH project number | 5R01NS129873-05 |
| Project ID | NIH-11399135 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are individuals with DYT1 dystonia or related movement disorders, and their families, who may benefit from advances in targeted therapies.
✕Less likely to help
This basic science grant does not involve direct patient participation, so some individuals with dystonia may not directly benefit during this project.
What this research studies
This project studies how the TOR1A gene mutation (torsinA∆E) disrupts brain areas and cell types involved in dystonia, using conditional knockin mouse models. The work looks at how dopamine and acetylcholine systems in the striatum contribute to abnormal movements, and whether torsinA∆E within specific neurons drives these changes. Researchers will combine genetic mouse models with behavioral testing and biochemical analyses to map where and how the disease starts in the brain. The findings could guide future therapies that target dysfunctional brain circuits in dystonia patients.
Why it matters
Potential benefit: Understanding the brain circuits behind DYT1 dystonia could lead to more precise therapies that improve movement and quality of life for patients.
How similar studies have gone: Previous animal studies have shown circuit-level changes in dystonia models, supporting the circuit hypothesis; this project builds on that foundation with more precise neuronal targeting.
Where this research is happening
-
University of Florida
Gainesville, United States Active
Researchers
- Principal investigator: Li, Yuqing — University of Florida
- Study coordinator: Li, Yuqing
Related research
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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.