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

doi:10.1152/physiol.00008.2020

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

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

27 Scopus citations

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.

Original language	English (US)
Pages (from-to)	375-390
Number of pages	16
Journal	Physiology
Volume	35
Issue number	6
DOIs	https://doi.org/10.1152/physiol.00008.2020
State	Published - Nov 2020

Funding

This study is supported by the National Heart, Lung, and Blood Institute Grants HL-144801, HL-126523, and HL-090554. M.K.A. is supported by São Paulo State Research Foundation (FAPESP, grants nos. 2019/11696-2 and 2016/ 23513-1). We would also like to thank Rett Syndrome Research Trust for generous support. This study is supported by the National Heart, Lung, and Blood Institute Grants HL-144801, HL-126523, and HL-090554. M.K.A. is supported by S?o Paulo State Research Foundation (FAPESP, grants nos. 2019/11696-2 and 2016/23513-1). We would also like to thank Rett Syndrome Research Trust for generous support.

Keywords

Autonomic dysregulation
Breathing
Dysphagia
Oxidative stress

ASJC Scopus subject areas

Physiology

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10.1152/physiol.00008.2020

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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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note = "Funding Information: This study is supported by the National Heart, Lung, and Blood Institute Grants HL-144801, HL-126523, and HL-090554. M.K.A. is supported by S{\~a}o Paulo State Research Foundation (FAPESP, grants nos. 2019/11696-2 and 2016/ 23513-1). We would also like to thank Rett Syndrome Research Trust for generous support. Funding Information: This study is supported by the National Heart, Lung, and Blood Institute Grants HL-144801, HL-126523, and HL-090554. M.K.A. is supported by S?o Paulo State Research Foundation (FAPESP, grants nos. 2019/11696-2 and 2016/23513-1). We would also like to thank Rett Syndrome Research Trust for generous support. Publisher Copyright: {\textcopyright} 2020 Int. Union Physiol. Sci./Am. Physiol. Soc.",

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AU - Weese-Mayer, Debra E.

AU - Huff, Alyssa

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The pathophysiology of rett syndrome with a focus on breathing dysfunctions

Abstract

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Keywords

ASJC Scopus subject areas

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