Breaking news for Central Congenital Hypoventilation Syndrome

In collaboration with Dr. Muriel Thoby-Brisson (Université de Bordeaux, Institut de Neurosciences Cognitives et Intégratives d’Aquitaine, CNRS), and thanks to Fondation Air Liquide, Association Française du syndrome d’Ondine and start-up company ATMOSR, team NeoPhen published in the prestigious “Blue Journal” (American Journal of Respiratory and Critical Care Medicine) a study^[1] showing that, in newborn mice, Phox2b27Ala/+ mutation predisposed pups not only to hypoventilation and central apneas, but also to obstructive and mixed apneas, likely because of hypoglossal dysgenesis. These results thus demand attention toward obstructive events in infants with CCHS. A study highlighted in Inserm magazine n°56 March 2023.

1: Madani A, Pitollat G, Sizun E, Cardoit L, Ringot M, Bourgeois T, Ramanantsoa N, Delclaux C, Dauger S, d’Ortho MP, Thoby-Brisson M, Gallego J, Matrot B. Obstructive Apneas in a Mouse Model of Congenital Central Hypoventilation Syndrome. Am J Respir Crit Care Med. 2021 Nov 15;204(10):1200-1210. doi: 10.1164/rccm.202104-0887OC. PMID: 34478357.

schema-explicatif-Inserm-U-1141-NeuroDiderot

Putative pathophysiology of obstructive apneas in Ondine syndrome

Monosynaptic or polysynaptic projections of Phox2b neurons from the NTS or RTN to the 12N may be required for upper airway permeabilitý during sleep. 7N = facial nucleus; 12N = hypoglossal nucleus; AP = area postrema; NTS = nucleus of the tractus solitarius: RTN = retro-trapezoid nucleus. Adapted from Amorim et al. AJRCCM 2021.

In Press

Inserm magazine describes work of team SleepCmd and team DN3 led by Muriel Thoby-Brisson at Université de Bordeaux (INCIA), page 9:

Inserm, le magazine n°53

Job opportunity within The Integrative Genomics in Neurodevelopment group

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Sleep2Develop research program

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Research program on CCHS

Neurodiderot, Programs SleepCmd

CCHS is a disease characterized by a congenital impairment of the central control of breathing, associated with dysfunctions of the autonomic nervous system (ANS) (Gallego, 2012). At birth, patients have severe and persistent hypoventilation during sleep and a...