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) |
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Pages (from-to) | 375-390 |
Number of pages | 16 |
Journal | Physiology |
Volume | 35 |
Issue number | 6 |
DOIs | |
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