Understanding how mutations affect a key enzyme involved in DNA methylation
Investigating the Impact of Disease-Associated Mutations on DNA Methyltransferase 1 Function
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.
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-10797285 on NIH RePORTER |
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 structural changes caused by these mutations, the research aims to uncover the biochemical mechanisms behind altered DNA methylation patterns in affected individuals. The study employs techniques such as melting temperature analysis and fluorescence anisotropy to assess the impact of these mutations on DNMT1's activity. Patients may benefit from insights gained into the role of DNA methylation in disease progression and potential therapeutic targets.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with adult-onset neurodegenerative disorders linked to mutations in the DNMT1 enzyme.
Not a fit: Patients without these specific mutations or those not affected by neurodegenerative disorders may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to a better understanding of neurodegenerative disorders and inform the development of targeted therapies.
How similar studies have performed: While the specific mutations in DNMT1 are being investigated in this research, similar studies have shown that understanding epigenetic modifications can lead to significant advancements in treating related diseases.
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.