Understanding how KCNQ1 protein misplacement affects Long QT Syndrome
Official title: Investigating KCNQ1 Mistrafficking in Long QT Syndrome
Funded at Vanderbilt University · NIH-10938003 · Data updated 2026-11-12
This study is looking at how problems with a protein called KCNQ1 might cause Long QT Syndrome, a heart condition that can lead to serious rhythm issues, and it aims to find out how changes in the KCNQ1 gene affect the protein's movement in heart cells, which could help develop new treatments for this condition.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Vanderbilt University NIH-funded |
| Lab location | 1 site (Nashville, UNITED STATES) |
| Project start | September 1, 2023 |
| Project end | June 30, 2025 |
| Funding year | 2024 |
| Award (this year) | $29,591 |
| NIH project number | 5F31HL168964-02 |
| Project ID | NIH-10938003 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with congenital Long QT Syndrome, particularly those with mutations in the KCNQ1 gene.
✕Less likely to help
Patients with Long QT Syndrome caused by mutations in genes other than KCNQ1 may not benefit from this research.
What this research studies
This research investigates the role of mistrafficking of the KCNQ1 protein in Long QT Syndrome (LQTS), a serious heart condition that can lead to life-threatening arrhythmias. The study aims to understand how mutations in the KCNQ1 gene disrupt the normal movement of this protein to the cell membrane, potentially causing cardiac dysfunction. By examining the structural and functional impacts of these mutations, the research seeks to uncover common mechanisms that lead to KCNQ1 loss of function. This could provide insights into new therapeutic strategies for managing LQTS.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment options for patients with Long QT Syndrome.
How similar studies have gone: Previous research has successfully identified mistrafficking as a disease mechanism in other conditions, suggesting potential for similar findings in this study.
Where this research is happening
-
Vanderbilt University
Nashville, United States Active
Researchers
- Principal investigator: Moster, Katherine R — Vanderbilt University
- Study coordinator: Moster, Katherine R
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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.