Low oxygen and mitochondria's role in spine development and congenital scoliosis
Hypoxia and mitochondria in spine development and congenital scoliosis
['FUNDING_R01'] · UNIVERSITY OF PENNSYLVANIA · NIH-11320814
This research looks at how low oxygen and mitochondrial changes during pregnancy can disrupt early spine formation and lead to congenital scoliosis.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF PENNSYLVANIA (nih funded) |
| Locations | 1 site (PHILADELPHIA, UNITED STATES) |
| Trial ID | NIH-11320814 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: 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.
Not a fit: Adults with degenerative or age-related scoliosis that develops after birth are unlikely to receive direct benefit from this embryology-focused work.
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 performed: 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
PHILADELPHIA, UNITED STATES
- UNIVERSITY OF PENNSYLVANIA — PHILADELPHIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: SCHIPANI, ERNESTINA — UNIVERSITY OF PENNSYLVANIA
- Study coordinator: SCHIPANI, ERNESTINA
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.