Investigating a genetic mutation linked to Parkinson's disease
Dnajc13 p.N860S as a physiologic model ofalpha-Synuclein overexpression
This study is looking at how a specific genetic change might contribute to Parkinson's disease by affecting a protein linked to the condition, and it aims to find new ways to help people with Parkinson's by understanding these genetic factors better.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Florida NIH-funded |
| Lab location | 1 site (Gainesville, United States) |
| Project ID | NIH-11088705 on NIH RePORTER |
What this research studies
This research focuses on understanding the role of a specific genetic mutation (Dnajc13 p.N860S) in the development of Parkinson's disease, particularly how it affects the accumulation of a protein called α-synuclein. By creating a model that mimics this mutation, researchers aim to explore the underlying mechanisms of the disease and test potential therapeutic strategies. Patients may benefit from insights gained about the genetic factors contributing to Parkinson's and the development of targeted treatments. The study employs advanced genetic techniques and cellular models to investigate the effects of this mutation on neuronal health.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals aged 65 and older who have a family history of Parkinson's disease or exhibit symptoms related to the condition.
Not a fit: Patients who are younger than 65 or do not have a genetic predisposition to Parkinson's disease may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic approaches for treating Parkinson's disease.
How similar studies have performed: Previous research has shown success in understanding genetic factors in Parkinson's disease, making this approach promising but still relatively novel.
Where this research is happening
Gainesville, United States
- University of Florida — Gainesville, United States (Active)
Researchers
- Principal investigator: Farrer, Matthew J — University of Florida
- Study coordinator: Farrer, Matthew J
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.