Document Detail

Early breathing defects after moderate hypoxia or hypercapnia in a mouse model of Rett syndrome.
MedLine Citation:
PMID:  19524074     Owner:  NLM     Status:  MEDLINE    
Rett syndrome (RTT) is a rare neurodevelopmental disease caused by mutations in the transcriptional repressor methyl-CpG-binding protein 2 (MeCP2) and accompanied by complex symptoms, including erratic breathing and life-threatening apnoeas. In Mecp2-deficient male mice (Mecp2(-/y)), breathing is normal at birth but becomes altered after postnatal day 30 (P30), with erratic rhythm and apnoeas aggravating until death at around P60. Using plethysmography, we analyzed breathing of unrestrained wild type mice and Mecp2(-/y) at P15, P25 and P30 under air and under short-lasting exposure to moderate hypoxia or hypercapnia. In Mecp2(-/y) with normal resting ventilation, we report exacerbated respiratory responses to hypoxia at P30 and transient apnoeas with erratic rhythm after hypoxia and hypercapnia at P30, P25 and occasionally P15. Then environmental factors may induce breathing defects well before than expected in Mecp2(-/y) and possibly in RTT patients. We therefore suggest avoiding exposure of young RTT patients to environmental situations where they may encounter moderate hypoxia or hypercapnia.
Nicolas Voituron; Sébastien Zanella; Clément Menuet; Mathias Dutschmann; Gérard Hilaire
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2009-06-11
Journal Detail:
Title:  Respiratory physiology & neurobiology     Volume:  168     ISSN:  1878-1519     ISO Abbreviation:  Respir Physiol Neurobiol     Publication Date:  2009 Aug 
Date Detail:
Created Date:  2009-08-28     Completed Date:  2009-12-02     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101140022     Medline TA:  Respir Physiol Neurobiol     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  109-18     Citation Subset:  IM    
Maturation, Plasticity, Physiology and Pathology of Respiration (mp3-resp team), Unité Mixte de Recherche 6231 CNRS, Faculté Saint-Jérôme, Service 362, 13397 Marseilles Cedex 20, France.
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MeSH Terms
Age Factors
Animals, Newborn
Anoxia / complications*
Disease Models, Animal
Hypercalcemia / complications*
Methyl-CpG-Binding Protein 2 / deficiency
Mice, Inbred C57BL
Mice, Knockout
Plethysmography / methods
Respiration Disorders / etiology*,  genetics
Rett Syndrome / genetics,  physiopathology*
Reg. No./Substance:
0/Mecp2 protein, mouse; 0/Methyl-CpG-Binding Protein 2

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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