How disease-linked changes affect the DNMT1 protein
Impact of Disease-Causing Mutations on DNMT1
This project looks at whether changes in the DNMT1 protein make it overactive and change its shape, which may relate to some adult-onset neurodegenerative conditions.
Quick facts
| Grant type | R15 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Bucknell University NIH-funded |
| Lab location | 1 site (Lewisburg, United States) |
| Project ID | NIH-11360878 on NIH RePORTER |
What this research studies
If you or a family member carry a DNMT1 mutation linked to adult-onset brain or nerve problems, this work aims to explain how those changes alter the protein's behavior. The team makes and purifies mutant DNMT1 proteins in the lab and runs biochemical tests to compare activity of the mutant versus normal enzyme. They focus on mutations in the RFTS regulatory region that appear to relieve normal autoinhibition and create a hyperactive enzyme, and will use structural and biochemical approaches to define the altered conformation. By mapping how mutations change DNMT1 shape and function, researchers hope to connect molecular changes to the human diseases seen in patients.
Who could benefit from this research
Good fit: People with adult-onset neurodegenerative conditions known to be linked to mutations in the DNMT1 gene would be the most relevant group.
Not a fit: People without DNMT1 mutations or with unrelated neurological conditions are unlikely to see direct benefit from this lab-based work.
Why it matters
Potential benefit: If successful, the findings could explain how DNMT1 mutations cause disease and point to targets for diagnostic testing or future treatments.
How similar studies have performed: Previous biochemical work has already shown that some DNMT1 RFTS mutations make the enzyme hyperactive, and this project builds on those results to define structural changes.
Where this research is happening
Lewisburg, United States
- Bucknell University — Lewisburg, United States (Active)
Researchers
- Principal investigator: Switzer, Rebecca — Bucknell University
- Study coordinator: Switzer, Rebecca
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.