The pathophysiology of rett syndrome with a focus on breathing dysfunctions
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...
| Authors: | , , , , , , |
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| Format: | article |
| Status: | Published version |
| Publication Date: | 2020 |
| Country: | Brasil |
| Institution: | Universidade Estadual Paulista (UNESP) |
| Repository: | Repositório Institucional da UNESP |
| Language: | English |
| OAI Identifier: | oai:repositorio.unesp.br:11449/206700 |
| Online Access: | http://dx.doi.org/10.1152/physiol.00008.2020 http://hdl.handle.net/11449/206700 |
| Access Level: | Open access |
| Keyword: | Autonomic dysregulation Breathing Dysphagia Oxidative stress |
| Summary: | 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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