Understanding how desmosomes affect heart cell health and disease
Desmosomes in cardiomyocyte homeostasis and disease
This study is looking at how certain connections between heart cells, called desmosomes, affect heart health and can lead to heart rhythm issues in people with arrhythmogenic cardiomyopathy (ACM), so we can better understand the condition and find new ways to help those affected.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-10992671 on NIH RePORTER |
What this research studies
This research investigates the role of desmosomes, which are structures that connect heart cells, in maintaining heart cell health and their involvement in arrhythmogenic cardiomyopathy (ACM). The study aims to uncover how mutations in desmosome genes lead to heart rhythm problems and muscle dysfunction. By examining the cellular composition and gene regulation in heart cells, researchers hope to understand the mechanisms that cause ACM and identify potential therapeutic targets. Patients may be monitored over time to assess the impact of these mutations on heart function.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with arrhythmogenic cardiomyopathy, particularly those with known desmosome gene mutations.
Not a fit: Patients without arrhythmogenic cardiomyopathy 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 new treatments for patients with arrhythmogenic cardiomyopathy, improving heart health and reducing the risk of life-threatening arrhythmias.
How similar studies have performed: Previous research has shown promising results in understanding the role of desmosomes in heart diseases, suggesting that this approach could yield valuable insights.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Pu, William Tswenching — Boston Children's Hospital
- Study coordinator: Pu, William Tswenching
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.