Work

The Pathophysiology of Rett Syndrome With a Focus on Breathing Dysfunctions

Year: 2020

Type: review

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.

Source: Physiology

DOI: 10.1152/physiol.00008.2020

Authors: Jan-Marino Ramirez, Marlusa Karlen-Amarante, Jia-Der Ju Wang, Nicholas E. Bush, Michael S. Carroll, Debra E. Weese-Mayer, Alyssa Huff

Institutions: University of Washington, Seattle Children's Research Institute, Universidade Estadual Paulista (Unesp), Northwestern University, Lurie Children's Hospital

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Rett Syndrome Research Trust, National Heart, Lung, and Blood Institute

Awards: Integrative Consequences of Hypoxia, Neuroglial interactions underlying the generation of the sigh, Integrative Consequences of Intermittent Hypoxia, Unraveling the dynamic mechanisms underlying opioid respiratory depression, Unraveling respiratory rhythm generation in medullary and supramedullary networks

OpenAlex ID: W3092755795

FWCI: 0.827

Cites: 228

Cited by: 52

Related to: 10