Investigating how a protein mutation affects heart cell structure and function in arrhythmogenic cardiomyopathy.
Official title: Intercalated disc-nuclear lamina coupling as a molecular substrate for arrhythmogenic cardiomyopathy
Funded at University of Rochester · NIH-10896191 · Data updated 2026-11-12
This study is looking at how changes in a protein called Plakophilin-2 can affect heart cells and lead to heart rhythm issues in people with arrhythmogenic right ventricular cardiomyopathy (ARVC), with the hope of finding new ways to help treat this condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Rochester NIH-funded |
| Lab location | 1 site (Rochester, United States) |
| Project start | August 1, 2023 |
| Project end | July 31, 2027 |
| Funding year | 2024 |
| Award (this year) | $658,771 |
| NIH project number | 5R01HL169961-02 |
| Project ID | NIH-10896191 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with arrhythmogenic right ventricular cardiomyopathy, particularly those with known mutations in the PKP2 gene.
✕Less likely to help
Patients without arrhythmogenic cardiomyopathy or those whose condition is unrelated to PKP2 mutations may not benefit from this research.
What this research studies
This research focuses on the role of a protein called Plakophilin-2 (PKP2) in heart cells, particularly how mutations in this protein contribute to arrhythmogenic right ventricular cardiomyopathy (ARVC). The study aims to understand how these mutations disrupt the structural integrity of heart cells and their communication with the nucleus, potentially leading to serious heart rhythm problems. By examining both mouse models and human samples, the researchers will explore the molecular changes that occur due to PKP2 deficiency and how these changes may accelerate the progression of ARVC. Patients may benefit from insights gained that could lead to new treatment strategies for this condition.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment options for patients with arrhythmogenic cardiomyopathy.
How similar studies have gone: Previous research has shown promising results in understanding the role of PKP2 in heart disease, suggesting that this approach could yield valuable insights.
Where this research is happening
-
University of Rochester
Rochester, United States Active
Researchers
- Principal investigator: Small, Eric M — University of Rochester
- Study coordinator: Small, Eric M
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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.