BME Seminar Series: Dr. Jose Otero, OSU College of Medicine

Assistant Professor, Faculty Affiliate, Chronic Brain Injury, Departments of Neuroscience, Pathology, Neuropathology, College of Medicine

Abstract:

"Mechanisms of congential hypoventilation"

Congenital Central Hypoventilation Syndrome (CCHS) represents a rare genetic disorder of the autonomic nervous system (ANS), characterized by monotonous breathing rhythms that do not change in response to altered levels of CO2 or O2, especially during NREM sleep.  CCHS patients present with a spectrum of CNS respiratory control pathophysiologies, ranging from deficiency in chemosensation during unassisted breathing, to the most severe manifestations of overt apnea in the neonatal setting that requires life-sustaining mechanical ventilation regardless of vigilance states.  Heterozygous mutations in Phox2b are known to be causative for CCHS, but the developmental mechanisms that cause this disease are unknown.  We have found that the apneic phenotype of CCHS is caused through non-cell autonomous developmental neuropathologies.​