Disturbances of Breathing in Rett Syndrome: Results from Patients and Animal Models
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.
KeywordsRett Syndrome Impaired Control Polygraphic Recording Laryngeal Closure Polygraphic Respiratory
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