Understanding how mutations in BK channels affect health
Official title: New approaches to understanding BK channelopathies at the molecular level of single channels
Funded at Washington University · NIH-10911038 · Data updated 2026-11-12
This study is looking into how changes in a specific gene can affect potassium channels in the body, which may help us understand health issues like autism and developmental delays, especially in people who have a mix of normal and mutated gene copies.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project start | September 1, 2023 |
| Project end | August 31, 2025 |
| Funding year | 2024 |
| Award (this year) | $425,573 |
| NIH project number | 5R01GM149998-02 |
| Project ID | NIH-10911038 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with mutations in the KCNMA1 gene who experience conditions like autism, developmental delays, or other related channelopathies.
✕Less likely to help
Patients without mutations in the KCNMA1 gene or those not affected by BK channelopathies may not benefit from this research.
What this research studies
This research investigates the molecular mechanisms behind BK channelopathies, which are conditions caused by mutations in the KCNMA1 gene affecting BK potassium channels. By focusing on how these mutations lead to various health issues, including autism and developmental delays, the research aims to study the assembly of mutant and wild-type subunits in these channels. The approach involves examining the hybrid channels formed in patients with heterozygous mutations, which are often overlooked in previous studies. This could lead to a better understanding of the biophysical properties of these channels and their role in associated disorders.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnostic and therapeutic strategies for patients with BK channel-related disorders.
How similar studies have gone: While the specific focus on hybrid BK channels is novel, previous research has shown success in understanding channelopathies through genetic and molecular approaches.
Where this research is happening
-
Washington University
Saint Louis, United States Active
Researchers
- Principal investigator: Salkoff, Lawrence B — Washington University
- Study coordinator: Salkoff, Lawrence B
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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.