TY - JOUR
T1 - The pathophysiology of rett syndrome with a focus on breathing dysfunctions
AU - Ramirez, Jan Marino
AU - Karlen-Amarante, Marlusa
AU - Wang, Jia Der Ju
AU - Bush, Nicholas E.
AU - Carroll, Michael S.
AU - Weese-Mayer, Debra E.
AU - Huff, Alyssa
N1 - 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 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.
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:
© 2020 Int. Union Physiol. Sci./Am. Physiol. Soc.
PY - 2020/11
Y1 - 2020/11
N2 - 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.
AB - 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.
KW - Autonomic dysregulation
KW - Breathing
KW - Dysphagia
KW - Oxidative stress
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U2 - 10.1152/physiol.00008.2020
DO - 10.1152/physiol.00008.2020
M3 - Article
C2 - 33052774
AN - SCOPUS:85092886147
SN - 1548-9213
VL - 35
SP - 375
EP - 390
JO - Physiology
JF - Physiology
IS - 6
ER -