How Marfan syndrome affects the heart and aorta
Regulation of Cardiovascular Physiology in Marfan Syndrome
This project looks at how Marfan syndrome changes heart and aorta function in people with the condition to help prevent aneurysms and heart failure.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Nebraska Medical Center NIH-funded |
| Lab location | 1 site (Omaha, United States) |
| Project ID | NIH-11362101 on NIH RePORTER |
What this research studies
Researchers will study how mutations in the fibrillin-1 protein change the connective tissue around heart cells and within the aortic wall using lab models and patient-derived samples. They will examine signaling pathways such as TGFβ and the angiotensin AT1 receptor and test how blocking those signals (for example with drugs like losartan) changes disease processes. The team will focus on tissue-specific differences to explain why some people develop aortic aneurysms while others develop weakened heart muscle. Findings are intended to point toward better-timed or more targeted treatments for people with Marfan syndrome.
Who could benefit from this research
Good fit: Ideal candidates would be people diagnosed with Marfan syndrome, especially those with known FBN1 (fibrillin-1) mutations or early signs of aortic enlargement or cardiomyopathy.
Not a fit: People without Marfan syndrome or whose heart disease is caused by unrelated conditions are unlikely to receive direct benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to better ways to prevent or slow aortic aneurysm and heart failure in people with Marfan syndrome.
How similar studies have performed: Similar approaches, such as using losartan to reduce TGFβ-related signaling, showed promise in animal models and some early human work but clinical results have been mixed and the precise tissue-specific effects remain unclear.
Where this research is happening
Omaha, United States
- University of Nebraska Medical Center — Omaha, United States (Active)
Researchers
- Principal investigator: Cook, Jason Rhede — University of Nebraska Medical Center
- Study coordinator: Cook, Jason Rhede
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.