Investigating how stiffening of the aorta from elastin loss causes SVAS
Official title: Investigating altered smooth muscle cell mechanotransduction as a cause of supravalvular aortic stenosis
Funded at Utah State Higher Education System--University of Utah · NIH-11568641 · Data updated 2026-11-12
A new NIH grant is exploring why elastin loss leads to supravalvular aortic stenosis and how abnormal smooth muscle cell signaling causes the aorta to narrow in children.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Utah State Higher Education System--University of Utah NIH-funded |
| Lab location | 1 site (Salt Lake City, United States) |
| Project start | December 1, 2022 |
| Project end | November 30, 2027 |
| Funding year | 2026 |
| Award (this year) | $217,671 |
| NIH project number | 7R01HL166448-05 |
| Project ID | NIH-11568641 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children and young adults with or at risk for supravalvular aortic stenosis due to elastin-related mutations may benefit from insights that guide future treatments.
✕Less likely to help
People without SVAS or elastin-related conditions may not benefit from this basic mechanistic research.
What this research studies
This project studies SVAS, a condition where the aorta narrows due to elastin gene mutations, by looking at how mechanical changes affect smooth muscle cells in the aorta. Researchers will examine mechanosensitive channels like Piezo1/2 and their role in calcium signaling and nuclear regulation that may drive cell changes leading to narrowing. Using a targeted mouse model that mimics human elastin deficiency, the team will track how reduced aortic stiffness alters cell behavior and gene expression related to cell differentiation and proliferation. The goal is to uncover actionable mechanisms that could be targeted with future therapies to prevent or lessen SVAS in affected patients.
Why it matters
Potential benefit: If successful, the findings could point to new therapeutic strategies to prevent or reduce aortic narrowing in SVAS patients.
How similar studies have gone: Preliminary data in a mouse SVAS model show mechanistic links between elastin insufficiency, altered aortic stiffness, and SMC signaling, supporting potential relevance to humans.
Where this research is happening
-
Utah State Higher Education System--University of Utah
Salt Lake City, United States Active
Researchers
- Principal investigator: Wagenseil, Jessica — Utah State Higher Education System--University of Utah
- Study coordinator: Wagenseil, Jessica
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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.