Understanding how KCNQ2 channels affect breathing control
Role of KCNQ2 Channels in Control of Breathing
This study is looking at how certain genetic changes affect breathing by focusing on special channels in the brain that help control how we breathe, especially when carbon dioxide levels change, to better understand why some people have trouble breathing.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Connecticut Storrs NIH-funded |
| Lab location | 1 site (Storrs-Mansfield, United States) |
| Project ID | NIH-11004391 on NIH RePORTER |
What this research studies
This research investigates the role of KCNQ2 channels in regulating breathing, particularly in patients with specific genetic mutations. It focuses on how these channels influence the brain's respiratory centers, especially in response to carbon dioxide levels. By examining the mechanisms behind KCNQ2 mutations, the study aims to uncover why some patients experience severe breathing difficulties. The research employs advanced techniques to analyze neuronal responses and the biochemical pathways involved in breathing regulation.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with KCNQ2 mutations, particularly those experiencing breathing difficulties or myoclonus.
Not a fit: Patients without KCNQ2 mutations or those not experiencing respiratory issues may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for breathing disorders associated with KCNQ2 mutations.
How similar studies have performed: While research on KCNQ2 channels is ongoing, this specific investigation into gain-of-function mutations and their impact on breathing is relatively novel.
Where this research is happening
Storrs-Mansfield, United States
- University of Connecticut Storrs — Storrs-Mansfield, United States (Active)
Researchers
- Principal investigator: Mulkey, Daniel K — University of Connecticut Storrs
- Study coordinator: Mulkey, Daniel K
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.