Tentative mouse model for the congenital central hypoventilation syndrome: heterozygous phox2b mutant newborn mice

Gallego, Jorge; Ramanantsoa, Nélina; Vaubourg, V.

doi:10.1007/978-0-387-70765-5_14

Genetic Basis for Respiratory Control Disorders

DOI: 10.1007/978-0-387-70765-5_14

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Tentative mouse model for the congenital central hypoventilation syndrome: heterozygous phox2b mutant newborn mice

Jorge Gallego

Nélina Ramanantsoa

V. Vaubourg

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Genetic Diseases: Congenital Central Hypoventilation, Rett, and Prader‐Willi Syndromes

Gallego

2012

Comprehensive Physiology

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The present review summarizes current knowledge on three rare genetic disorders of respiratory control, congenital central hypoventilation syndrome (CCHS), Rett syndrome (RTT), and Prader‐Willi syndrome (PWS). CCHS is characterized by lack of ventilatory chemosensitivity caused by PHOX2B gene abnormalities consisting mainly of alanine expansions. RTT is associated with episodes of tachypneic and irregular breathing intermixed with breathholds and apneas and is caused by mutations in the X‐linked MECP2 gene encoding methyl‐CpG‐binding protein. PWS manifests as sleep‐disordered breathing with apneas and episodes of hypoventilation and is caused by the loss of a group of paternally inherited genes on chromosome 15. CCHS is the most specific disorder of respiratory control, whereas the breathing disorders in RTT and PWS are components of a more general developmental disorder. The main clinical features of these three disorders are reviewed with special emphasis on the associated brain abnormalities. In all three syndromes, disease‐causing genetic defects have been identified, allowing the development of genetically engineered mouse models. New directions for future therapies based on these models or, in some cases, on clinical experience are delineated. Studies of CCHS, RTT, and PWS extend our knowledge of the molecular and cellular aspects of respiratory rhythm generation and suggest possible pharmacological approaches to respiratory control disorders. This knowledge is relevant for the clinical management of many respiratory disorders that are far more prevalent than the rare diseases discussed here. © 2012 American Physiological Society. Compr Physiol 2:2255‐2279, 2012.

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Genetic Diseases: Congenital Central Hypoventilation, Rett, and Prader‐Willi Syndromes

Gallego

2012

Comprehensive Physiology

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Tentative mouse model for the congenital central hypoventilation syndrome: heterozygous phox2b mutant newborn mice

Cited by 1 publication

References 55 publications

Genetic Diseases: Congenital Central Hypoventilation, Rett, and Prader‐Willi Syndromes

Genetic Diseases: Congenital Central Hypoventilation, Rett, and Prader‐Willi Syndromes

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