Hypoxia and Mitochondria in Somitogenesis
We are studying the interplay between mitochondria and HIF1-dependent reprogramming of metabolism in congenital scoliosis.
We recently established that HIF1 is critical for spine development. Its loss in the presomitic mesoderm impairs somitogenesis and causes spine and rib malformations that closely mimic those observed in patients with Jarcho-Levin Syndrome, a rare form of spondylothoracic dysplasia (Manuscript in preparation). We are currently investigating whether the impairment of somitogenesis secondary to loss of HIF1 is due to dysregulation of glycolysis and mitochondrial function in the presomitic mesoderm (R01 HD112003, Dr. Schipani PI).