Comparative studies on the respiratory dysfunction in Rett syndrome patients and the corresponding mouse model

Abstract

Rett syndrome (RTT) is a severe neurodevelopmental disorder. Mutations as primary cause of RTT have been identified in the X-linked methyl-CpG binding protein 2 (MeCP2) gene. Most patients suffer from potentially life-threatening breathing disturbances. In spite of the clinical impact of the respiratory dysfunction in RTT little is known about the underlying mechanisms. To study the pathomechanisms of the respiratory disorder in RTT we performed comparative analysis of the breathing dysfunction in RTT patients and the corresponding mouse model. Therefore, we investigated the breathing activity in ambulatory RTT patients by long-term plethysmographic recordings using a mobile sleep laboratory recorder. In addition, we characterised the breathing phenotype of MeCP2-/y knockout (KO) mice using the working heart-brainstem preparation (WHBP).