Understanding how mutations affect a key enzyme involved in DNA methylation
Official title: Investigating the Impact of Disease-Associated Mutations on DNA Methyltransferase 1 Function
Funded at Bucknell University · NIH-10291710 · Data updated 2026-11-12
This study is looking at how certain changes in a specific enzyme related to DNA can affect brain health and contribute to neurodegenerative disorders, helping patients understand more about the biological reasons behind their 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 | July 31, 2025 |
| Funding year | 2021 |
| Award (this year) | $202,603 |
| NIH project number | 1R15GM143693-01 |
| Project ID | NIH-10291710 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are adults with specific mutations in the RFTS domain of DNMT1 associated with neurodegenerative disorders.
✕Less likely to help
Patients without these specific mutations or those not affected by neurodegenerative disorders may not benefit from this research.
What this research studies
This research investigates how specific mutations in the DNA methyltransferase 1 (DNMT1) enzyme can alter its function and contribute to neurodegenerative disorders. By examining the structure and activity of DNMT1, particularly focusing on the RFTS domain, the researchers aim to uncover the biochemical mechanisms behind abnormal DNA methylation patterns observed in affected individuals. The study employs techniques such as melting temperature analysis and fluorescence anisotropy to assess the impact of these mutations on enzyme behavior. Patients may gain insights into the molecular basis of their conditions through this work.
Why it matters
Potential benefit: If successful, this research could lead to a better understanding of neurodegenerative disorders and potentially inform new therapeutic strategies.
How similar studies have gone: While the investigation of DNMT1 mutations is a growing field, this specific approach to understanding their biochemical impact is relatively novel.
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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Understanding how mutations affect a key enzyme involved in DNA methylation
This study is looking at how certain changes in a protein called DNMT1 might affect brain health and contribute to neurodegenerative diseases, with the hope that understanding these changes can help find new ways to treat these conditions.
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.