How heart cell connections (desmosomes) affect heart rhythm and muscle health in arrhythmogenic cardiomyopathy
Desmosomes in cardiomyocyte homeostasis and disease
Researchers are looking at how the tiny structures that join heart muscle cells (desmosomes) change in adults with arrhythmogenic cardiomyopathy to understand why arrhythmias and heart muscle loss happen.
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-11229793 on NIH RePORTER |
What this research studies
If I join, researchers will study the cell structures that link heart muscle cells to learn how they keep cells stable and how mutations lead to problems. They will map which cell types are present and which genes are turned on or off in affected heart tissue using single-cell and ATAC-sequencing techniques. The team will also use lab models of desmosome gene mutations to separate the effects of structural damage from altered cell signaling. Overall they aim to connect these cellular changes to the rhythm problems and heart muscle weakening people experience.
Who could benefit from this research
Good fit: Adults (21+) with diagnosed arrhythmogenic cardiomyopathy or who carry pathogenic desmosome gene variants, and their family members, would be the most relevant candidates.
Not a fit: People without ACM or desmosome mutations, children under 21, and those seeking immediate treatment rather than mechanistic research are unlikely to receive direct benefit from this work.
Why it matters
Potential benefit: Understanding how desmosome mutations cause arrhythmias and muscle loss could eventually lead to better tests, risk prediction, or targeted treatments to prevent dangerous heart rhythms and heart failure.
How similar studies have performed: Previous genetic and cellular studies have linked desmosome genes to ACM and single-cell/ATAC-seq methods have provided useful insights in other heart diseases, but using them together to tie desmosome structure to signaling in ACM is relatively novel.
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.