How DNA-packaging proteins guide heart formation and cause congenital heart defects
Function and regulation of chromatin remodeling complexes in cardiac development and disease
This project looks at how certain proteins that change DNA packaging in heart cells affect heart formation, aiming to help people born with structural heart defects.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of North Carolina Chapel Hill NIH-funded |
| Lab location | 1 site (Chapel Hill, United States) |
| Project ID | NIH-11178525 on NIH RePORTER |
What this research studies
Researchers are studying proteins called SMYD1 and components of the MLL4-COMPASS complex that modify how DNA is packaged in developing heart cells. They will use molecular and cellular models to see how SMYD1 helps assemble this protein complex and how KDM6a influences its activity at heart gene switches. The team will track when and where these proteins act during heart development to explain how mutations lead to congenital heart defects. Understanding these steps could point toward better genetic diagnosis or targets for future therapies.
Who could benefit from this research
Good fit: This research is most relevant to people born with structural heart defects, families curious about genetic causes, or individuals willing to provide samples or join future related clinical studies.
Not a fit: People with heart problems caused mainly by acquired conditions or lifestyle factors (not developmental genetic causes) are unlikely to see direct benefits from this basic genetic research.
Why it matters
Potential benefit: If successful, this work could reveal molecular causes of congenital heart defects and suggest new targets for diagnosis or future treatments.
How similar studies have performed: Previous lab studies have linked SMYD1 and MLL4-related proteins to heart development, so this project builds on existing findings but aims to define the specific molecular steps more precisely.
Where this research is happening
Chapel Hill, United States
- Univ of North Carolina Chapel Hill — Chapel Hill, United States (Active)
Researchers
- Principal investigator: Conlon, Frank Leo — Univ of North Carolina Chapel Hill
- Study coordinator: Conlon, Frank Leo
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.