• Respir Physiol Neurobiol · Aug 2009

    PHOX2B in respiratory control: lessons from congenital central hypoventilation syndrome and its mouse models.

    • Jeanne Amiel, Véronique Dubreuil, Nélina Ramanantsoa, Gilles Fortin, Jorge Gallego, Jean-François Brunet, and Christo Goridis.
    • INSERM U781, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France. Jeanne.amiel@inserm.fr
    • Respir Physiol Neurobiol. 2009 Aug 31; 168 (1-2): 125-32.

    AbstractPhox2b is a master regulator of visceral reflex circuits. Its role in the control of respiration has been highlighted by the identification of heterozygous PHOX2B mutations as the cause of Central Congenital Hypoventilation Syndrome (CCHS), a rare disease defined by the lack of CO(2) responsiveness and of breathing automaticity in sleep. Phox2b(27Ala/+) mice that bear a frequent CCHS-causing mutation do not respond to hypercapnia and die in the first hour after birth from central apnoea. They are therefore a reliable animal model for CCHS. Neurons of the retrotrapezoïd nucleus/parafacial respiratory group (RTN/pFRG) were found severely depleted in these mice and no other neuronal loss could be identified. Physiological experiments show that RTN/pFRG neurons are crucial to driving proper breathing at birth and are necessary for central chemoreception and the generation of a normal respiratory rhythm. To date, the reason for the selective vulnerability of RTN/pFRG neurons to PHOX2B protein dysfunction remains unexplained.

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