How genes and pregnancy vitamin A levels can cause heart birth defects
Official title: Gene x Environment Interactions and Congenital Heart Defects – Illuminating the Mechanisms
Funded at Children's Research Institute · NIH-11319781 · Data updated 2026-11-12
This project examines how a mother's vitamin A levels and a baby's change in the HECTD1 gene together can lead to congenital heart defects in developing babies.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Research Institute NIH-funded |
| Lab location | 1 site (Washington, United States) |
| Project start | July 21, 2023 |
| Project end | April 30, 2028 |
| Funding year | 2026 |
| Award (this year) | $540,360 |
| NIH project number | 5R01HD113214-04 |
| Project ID | NIH-11319781 on NIH RePORTER |
Who could benefit from this research
✓Could help
Families affected by congenital heart defects or pregnant people concerned about vitamin A exposure may be the kinds of people who could take part in related future human studies.
✕Less likely to help
People without pregnancy plans or whose heart defects have known causes unrelated to vitamin A or HECTD1 are unlikely to directly benefit from this specific research.
What this research studies
Researchers use a new mouse model to mimic how a baby's HECTD1 gene change combined with low maternal vitamin A can cause congenital heart defects. They alter vitamin A in the diets of pregnant mice and study embryos' heart development and gene activity in cardiac progenitor cells. The team will examine how the HECTD1 protein affects retinoic acid signaling and cell fate decisions that shape the heart. Findings aim to reveal molecular steps that could point to prevention strategies or risk markers for families.
Why it matters
Potential benefit: If successful, this work could reveal how diet and specific gene changes interact to cause heart birth defects, suggesting ways to reduce risk through nutrition guidance or genetic risk information.
How similar studies have gone: Previous animal studies have shown that vitamin A/retinoic acid influences heart development, but combining HECTD1 genetic changes with maternal vitamin A levels is a newer, less-tested approach.
Where this research is happening
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Children's Research Institute
Washington, United States Active
Researchers
- Principal investigator: Zohn, Irene E — Children's Research Institute
- Study coordinator: Zohn, Irene E
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.