How TMEM230 causes Parkinson's disease in mice
Mouse model studies of TMEM230-linked Parkinson's disease
The team uses mice carrying human TMEM230 mutations to look at how those changes disrupt nerve-cell vesicle recycling and contribute to Parkinson's disease.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Northwestern University NIH-funded |
| Lab location | 1 site (Chicago, United States) |
| Project ID | NIH-11237581 on NIH RePORTER |
What this research studies
Researchers are creating and studying mice that carry human TMEM230 mutations linked to Parkinson's to see how the protein works inside nerve cells. They will track where TMEM230 sits in neurons and how it interacts with the AP2/clathrin machinery that helps form and recycle synaptic vesicles. The project uses imaging, biochemistry, and electrical recordings to compare mutant and normal TMEM230 effects on vesicle formation, recycling, and neurotransmission. Findings will be related back to human genetic data to suggest possible markers or targets for future therapies.
Who could benefit from this research
Good fit: People with Parkinson's disease, especially those known to carry TMEM230 mutations or with a strong family history, would be most relevant to follow these findings or donate samples.
Not a fit: Patients whose Parkinson's is unrelated to TMEM230 mutations or who need immediate clinical therapies are unlikely to receive direct benefit from this basic research.
Why it matters
Potential benefit: If successful, this work could reveal molecular steps that fail in TMEM230-linked Parkinson's and point to targets for new treatments or diagnostics.
How similar studies have performed: Prior lab work showed TMEM230 binds AP2 and affects vesicle recycling, but using mouse models to connect those molecular defects to neuronal dysfunction is a relatively new step.
Where this research is happening
Chicago, United States
- Northwestern University — Chicago, United States (Active)
Researchers
- Principal investigator: Deng, Han-Xiang — Northwestern University
- Study coordinator: Deng, Han-Xiang
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.