Investigating heart disease caused by genetic mutations in cell adhesion proteins
ERK1/2-Integrin Signaling in Desmosome-Dyad Crosstalk
This study is looking at how certain genetic changes in heart proteins can affect heart function and cause dangerous heart rhythms in people with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), especially young athletes, to help find better ways to manage and treat this condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Iowa NIH-funded |
| Lab location | 1 site (Iowa City, United States) |
| Project ID | NIH-10908327 on NIH RePORTER |
What this research studies
This research focuses on Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), a genetic heart condition that can lead to life-threatening arrhythmias and sudden cardiac death, especially in young athletes. The study aims to understand how mutations in desmosome proteins affect heart function and contribute to arrhythmias by examining heart tissue samples from affected patients. Using advanced techniques like mass spectrometry and CRISPR, the researchers will explore the molecular mechanisms behind the disease, particularly the role of integrin β1D and its impact on calcium channels in heart cells. The goal is to uncover new insights that could lead to better management and treatment options for patients with ARVC.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Arrhythmogenic Right Ventricular Cardiomyopathy, particularly those with known desmosome gene mutations.
Not a fit: Patients without a diagnosis of ARVC or those with other unrelated heart conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnostic and therapeutic strategies for patients with ARVC, potentially reducing the risk of sudden cardiac death.
How similar studies have performed: Previous research has shown promising results in understanding similar genetic heart conditions, indicating that this approach could yield valuable insights.
Where this research is happening
Iowa City, United States
- University of Iowa — Iowa City, United States (Active)
Researchers
- Principal investigator: Song, Long-Sheng — University of Iowa
- Study coordinator: Song, Long-Sheng
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.