The Pathophysiology of Rett Syndrome With a Focus on Breathing Dysfunctions

Overview

Journal Physiology (Bethesda)

Specialty Physiology

Date 2020 Oct 14

PMID 33052774

Citations 19

Authors

Jan-Marino Ramirez

Marlusa Karlen-Amarante

Jia-Der Ju Wang

Nicholas E Bush

Michael S Carroll

Debra E Weese-Mayer

Alyssa Huff

Affiliations

Soon will be listed here.

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.

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