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Disturbances of Breathing in Rett Syndrome: Results from Patients and Animal Models

  • Georg M. Stettner
  • Peter Huppke
  • Jutta Gärtner
  • Diethelm W. Richter
  • Mathias Dutschmann
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 605)

Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked gene MECP2 (Amir et al. 1999). MECP2 encodes the methyl-CpG binding protein 2 (MeCP2), which acts as a transcriptional repressor. The target genes regulated by MeCP2 are still subject to intensive research (Bienvenu and Chelly 2006). Besides mental retardation, most patients suffer from potentially life-threatening breathing arrhythmia during wakefulness (Kerr et al. 1997). Predominantly alternating periods of hyperventilation and apnoeas occur (Julu et al. 2001; Weese-Mayer et al. 2006). The availability of Mecp2 −/y knockout (KO) mice (Guy et al. an animal model for RTT, now allows more detailed studies of the respiratory dysfunction. Plethysmographic investigations revealed a RTT like respiratory disorder in KO mice in vivo (Viemari et al. 2005). We recently linked the respiratory disorder of KO in situ preparations to an impaired control of postinspiratory activity (Stettner et al. 2007). In this book chapter we compare the respiratory phenotype of KO in situ preparations with our preliminary results from polygraphic investigations in RTT patients with severe respiratory phenotype.

Keywords

Rett Syndrome Impaired Control Polygraphic Recording Laryngeal Closure Polygraphic Respiratory 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer 2008

Authors and Affiliations

  • Georg M. Stettner
    • 1
  • Peter Huppke
    • 1
    • 3
  • Jutta Gärtner
    • 1
    • 3
  • Diethelm W. Richter
    • 2
    • 3
  • Mathias Dutschmann
    • 2
    • 3
  1. 1.Department of Pediatrics and Pediatric NeurologyGeorg August UniversityGöttingenGermany
  2. 2.Department of Neuro and Sensory PhysiologyGeorg August UniversityGöttingenGermany
  3. 3.DFG Research Center Molecular Physiology of the Brain (CMPB)GöttingenGermany

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