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Respiratory and autonomic dysfunction in congenital central hypoventilation syndrome.

ABSTRACT: The developmental lineage of the PHOX2B-expressing neurons in the retrotrapezoid nucleus (RTN) has been extensively studied. These cells are thought to function as central respiratory chemoreceptors, i.e., the mechanism by which brain Pco2 regulates breathing. The molecular and cellular basis of central respiratory chemoreception is based on the detection of CO2 via intrinsic proton receptors (TASK-2, GPR4) as well as synaptic input from peripheral chemoreceptors and other brain regions. Murine models of congenital central hypoventilation syndrome designed with PHOX2B mutations have suggested RTN neuron agenesis. In this review, we examine, through human and experimental animal models, how a restricted number of neurons that express the transcription factor PHOX2B play a crucial role in the control of breathing and autonomic regulation.

SUBMITTER: Moreira TS

PROVIDER: S-EPMC6208311 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature

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Respiratory and autonomic dysfunction in congenital central hypoventilation syndrome.

Moreira Thiago S TS Takakura Ana C AC Czeisler Catherine C Otero Jose J JJ

Journal of neurophysiology 20160525 2

The developmental lineage of the PHOX2B-expressing neurons in the retrotrapezoid nucleus (RTN) has been extensively studied. These cells are thought to function as central respiratory chemoreceptors, i.e., the mechanism by which brain Pco2 regulates breathing. The molecular and cellular basis of central respiratory chemoreception is based on the detection of CO2 via intrinsic proton receptors (TASK-2, GPR4) as well as synaptic input from peripheral chemoreceptors and other brain regions. Murine ...[more]

PMID: 27226447

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