Low oxygen and mitochondria's role in spine development and congenital scoliosis
Official title: Hypoxia and mitochondria in spine development and congenital scoliosis
Funded at University of Pennsylvania · NIH-11320814 · Data updated 2026-11-12
This research looks at how low oxygen and mitochondrial changes during pregnancy can disrupt early spine formation and lead to congenital scoliosis.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | April 1, 2023 |
| Project end | March 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $349,375 |
| NIH project number | 5R01HD112003-04 |
| Project ID | NIH-11320814 on NIH RePORTER |
Who could benefit from this research
✓Could help
This research is most relevant to people and families affected by congenital scoliosis or spondylocostal dysostosis, and to expectant parents with a family history of vertebral malformations.
✕Less likely to help
Adults with degenerative or age-related scoliosis that develops after birth are unlikely to receive direct benefit from this embryology-focused work.
What this research studies
Researchers use mouse models that carry the same Notch pathway mutations linked to human congenital scoliosis and expose embryos to low-oxygen conditions similar to what can occur during gestation. They turn off hypoxia-related genes (like HIF1) specifically in the tissue that forms vertebrae to see how somites and vertebrae develop. The team also examines mitochondrial and bioenergetic changes that may interact with Notch signaling to worsen spine malformations. Findings aim to connect specific genetic and environmental factors that cause congenital spine defects.
Why it matters
Potential benefit: If successful, this work could clarify causes of congenital scoliosis and point to ways to prevent or better treat vertebral malformations linked to gestational hypoxia.
How similar studies have gone: Previous animal studies have shown that Notch mutations and gestational hypoxia can cause vertebral defects, but the specific roles of HIF1/HIF2 and mitochondrial pathways in somitogenesis are largely untested and novel here.
Where this research is happening
-
University of Pennsylvania
Philadelphia, United States Active
Researchers
- Principal investigator: Schipani, Ernestina — University of Pennsylvania
- Study coordinator: Schipani, Ernestina
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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.