N-terminal acetylation and heart disease in people with autism spectrum traits
Official title: The role N-terminal acetylation in dilated cardiomyopathy and associated arrhythmia
Funded at Boston Children's Hospital · NIH-11330165 · Data updated 2026-11-12
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.
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 | 2026 |
| Award (this year) | $710,363 |
| NIH project number | 5R01HL164710-04 |
| Project ID | NIH-11330165 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with cardiomyopathy and arrhythmias, especially those with NatA/NAA10-related mutations and related congenital heart conditions, may be eligible for future studies.
✕Less likely to help
People without the NatA/NAA10-related genetic profile or with non-cardiac predominant conditions may not directly benefit.
What this research studies
Researchers are studying how changes at the N-terminus of proteins, driven by the NatA complex, affect heart muscle function and the risk of arrhythmias. They use iPSC-derived heart cells from affected patients to model the disease and perform electrophysiology tests to understand electrical problems in the heart. The goal is to connect molecular changes to heart rhythms and identify potential ways to prevent sudden death in those with related genetic conditions. The project emphasizes translating lab findings toward therapies that could help patients with cardiomyopathy and arrhythmias.
Why it matters
Potential benefit: If successful, the work could lead to new strategies to prevent dangerous heart rhythms in people with specific genetic forms of cardiomyopathy.
How similar studies have gone: Preliminary models using patient-derived cells have shown promise in linking genetic changes to electrical abnormalities in the heart.
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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Understanding how N-terminal acetylation affects heart function and arrhythmias
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.
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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.
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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.
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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.
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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.