How disease-linked changes affect the DNMT1 protein
Official title: Impact of Disease-Causing Mutations on DNMT1
Funded at Bucknell University · NIH-11360878 · Data updated 2026-11-12
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 start | August 1, 2021 |
| Project end | March 31, 2029 |
| Funding year | 2026 |
| Award (this year) | $241,120 |
| NIH project number | 2R15GM143693-02 |
| Project ID | NIH-11360878 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with adult-onset neurodegenerative conditions known to be linked to mutations in the DNMT1 gene would be the most relevant group.
✕Less likely to help
People without DNMT1 mutations or with unrelated neurological conditions are unlikely to see direct benefit from this lab-based work.
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.
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 gone: 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
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Bucknell University
Lewisburg, United States Active
Researchers
- Principal investigator: Switzer, Rebecca — Bucknell University
- Study coordinator: Switzer, Rebecca
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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.