Understanding how N-terminal acetylation affects heart function and arrhythmias
Official title: The role N-terminal acetylation in dilated cardiomyopathy and associated arrhythmia
Funded at Boston Children's Hospital · NIH-11083117 · Data updated 2026-11-12
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 start | August 3, 2023 |
| Project end | April 30, 2027 |
| Funding year | 2025 |
| Award (this year) | $752,579 |
| NIH project number | 5R01HL164710-03 |
| Project ID | NIH-11083117 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include male patients with congenital heart disease, cardiomyopathy, and arrhythmias, particularly those with identified mutations in the NAA10 gene.
✕Less likely to help
Patients without genetic mutations related to N-terminal acetylation or those with unrelated heart conditions may not benefit from this research.
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.
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 gone: 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 Children's Hospital
Boston, United States Active
Researchers
- Principal investigator: Bezzerides, Vassilios James — Boston Children's Hospital
- Study coordinator: Bezzerides, Vassilios James
Related research
Other NIH-funded projects on the same topics.
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N-terminal acetylation and heart disease in people with autism spectrum traits
This grant looks at how a specific protein modification may contribute to heart problems in people with autism, aiming to uncover targets that could reduce dangerous heart rhythms.
-
Discovery of rare genetic variants linked to dilated cardiomyopathy using big biobank data
A large-scale genetic study will look for rare gene variants that affect dilated cardiomyopathy to improve how we diagnose and manage the condition.
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Understanding how muscle ribosome mutations cause severe neonatal dilated cardiomyopathy and ways to treat it
This grant focuses on a rare genetic heart condition in newborns caused by mutations in a muscle-specific ribosomal protein, with hopes to find new ways to diagnose and treat it.
-
Unlocking how rare genetic changes cause dilated cardiomyopathy
A large study will look at genetic data from many people to understand which rare variants affect dilated cardiomyopathy and how this changes risk and treatment.
-
Role of Lmod2 in heart muscle and dilated cardiomyopathy
This NIH grant explores how a heart-specific protein (Lmod2) helps heart cells contract properly and how its problems can cause dilated cardiomyopathy in infants and children.
-
Targeting DNA Damage Pathways in LMNA-Related Heart Disease
A study to understand how damaged DNA and inflammatory signals contribute to dilated cardiomyopathy caused by LMNA mutations and explore therapies that can protect the heart.
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.