Understanding VCP Gene Changes in Frontotemporal Dementia
Loss of VCP Function in Frontotemporal Lobar Degeneration
This project explores how changes in a gene called VCP contribute to brain diseases like frontotemporal dementia and Alzheimer's, which involve harmful protein buildup.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11297455 on NIH RePORTER |
What this research studies
This research focuses on a rare genetic change in the VCP gene that is linked to a type of frontotemporal dementia where harmful tau proteins accumulate in the brain. Scientists will examine the VCP protein's structure to understand how it interacts with these problematic protein clumps and how VCP mutations affect its ability to break them down. They will also use cell and animal models to see how VCP changes impact its activity and whether adjusting VCP activity can reduce the toxic effects of tau protein. The goal is to uncover the basic ways VCP problems lead to different brain diseases.
Who could benefit from this research
Good fit: This foundational research is not directly recruiting patients but aims to help those affected by frontotemporal dementia, Alzheimer's disease, and related tauopathies.
Not a fit: Patients whose conditions are not related to VCP dysfunction or tau protein accumulation may not directly benefit from this specific line of research.
Why it matters
Potential benefit: If successful, this work could reveal new ways to target the VCP protein to prevent or treat different types of neurodegenerative diseases, including frontotemporal dementia and Alzheimer's.
How similar studies have performed: While the specific VCP mutation identified is novel, other studies have shown that understanding rare genetic causes can provide insights into more common forms of neurodegenerative diseases.
Where this research is happening
Philadelphia, United States
- University of Pennsylvania — Philadelphia, United States (Active)
Researchers
- Principal investigator: Lee, Edward Byung-Ha — University of Pennsylvania
- Study coordinator: Lee, Edward Byung-Ha
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.