How a DYT1 gene change affects brain cells in mice
Supplement: Pathophysiology of DYT1 dystonia: Targeted Mouse Models
['FUNDING_R01'] · UNIVERSITY OF FLORIDA · NIH-11232412
Researchers are studying how the common DYT1 gene deletion affects specific brain cells in mice to help people with early-onset DYT1 dystonia.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF FLORIDA (nih funded) |
| Locations | 1 site (GAINESVILLE, UNITED STATES) |
| Trial ID | NIH-11232412 on ClinicalTrials.gov |
What this research studies
This project uses specially engineered mice that carry the same DYT1/TOR1A mutation found in people. Scientists will turn the mutant gene on or off in particular brain regions and cell types to see which neurons produce dystonia-like signs. The team is focusing on striatal medium spiny neurons because early data point to their important role. By mapping which cells and circuits go wrong, the work aims to point to targets for future treatments.
Who could benefit from this research
Good fit: People with early-onset DYT1 dystonia or family members who carry the DYT1/TOR1A mutation are most likely to benefit from the knowledge this research produces.
Not a fit: People with other forms of dystonia or movement disorders not caused by the DYT1/TOR1A mutation may not receive direct benefit from this work.
Why it matters
Potential benefit: If successful, the findings could identify specific brain-cell targets to guide development of new treatments for DYT1 dystonia.
How similar studies have performed: Previous genetically modified mouse studies have implicated striatal neurons in DYT1 dystonia but have not yet explained how the torsinAΔE mutation causes symptoms, so this work builds on existing animal research rather than testing a proven therapy.
Where this research is happening
GAINESVILLE, UNITED STATES
- UNIVERSITY OF FLORIDA — GAINESVILLE, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: LI, YUQING — UNIVERSITY OF FLORIDA
- Study coordinator: LI, YUQING
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.