The Pathophysiology of Rett Syndrome With a Focus on Breathing Dysfunctions
Jan‐Marino Ramirez, Marlusa Karlen‐Amarante, Jia-Der Ju Wang, Nicholas E. Bush, Michael S. Carroll, Debra E. Weese‐Mayer, Alyssa Huff
Abstract
Rett syndrome (RTT), an X-chromosome-linked neurological disorder, is characterized by serious pathophysiology, including breathing and feeding dysfunctions, and alteration of cardiorespiratory coupling, a consequence of multiple interrelated disturbances in the genetic and homeostatic regulation of central and peripheral neuronal networks, redox state, and control of inflammation. Characteristic breath-holds, obstructive sleep apnea, and aerophagia result in intermittent hypoxia, which, combined with mitochondrial dysfunction, causes oxidative stress-an important driver of the clinical presentation of RTT.
Topics & Concepts
Rett syndromePathophysiologyMedicineMECP2NeuroscienceObstructive sleep apneaCardiorespiratory fitnessIntermittent hypoxiaOxidative stressHypoxia (environmental)BioinformaticsInternal medicinePsychologyBiologyGeneticsOxygenPhenotypeGeneOrganic chemistryChemistryGenetics and Neurodevelopmental DisordersChild Nutrition and Feeding IssuesNeuroscience of respiration and sleep