Understanding how N-terminal acetylation affects heart function and arrhythmias
The role N-terminal acetylation in dilated cardiomyopathy and associated arrhythmia
This study is looking at how certain genetic changes affect heart function in people with dilated cardiomyopathy and arrhythmias, using special cells from patients to better understand these conditions and find new ways to help treat them.
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-11083117 on NIH RePORTER |
What this research studies
This research investigates the role of N-terminal acetylation in dilated cardiomyopathy and associated arrhythmias, which are serious heart conditions. By studying patients with mutations in the N-terminal acetyltransferase complex, the research aims to uncover how these mutations affect heart function and lead to arrhythmias. The team uses induced pluripotent stem cells derived from affected patients to create models that mimic the disease, allowing for detailed electrophysiological analysis. This approach may help identify new therapeutic targets for treating heart failure and arrhythmias.
Who could benefit from this research
Good fit: Ideal candidates for this research include male patients with congenital heart disease, cardiomyopathy, and arrhythmias, particularly those with identified mutations in the NAA10 gene.
Not a fit: Patients without genetic mutations related to N-terminal acetylation or those with unrelated heart conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that improve heart function and reduce the risk of arrhythmias in affected patients.
How similar studies have performed: While the specific focus on N-terminal acetylation in this context is novel, related research has shown promise in understanding the genetic underpinnings of cardiomyopathy and arrhythmias.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Bezzerides, Vassilios James — Boston Children's Hospital
- Study coordinator: Bezzerides, Vassilios James
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.