Artículos de revistas
The pathophysiology of rett syndrome with a focus on breathing dysfunctions
Fecha
2020-11-01Registro en:
Physiology, v. 35, n. 6, p. 375-390, 2020.
1548-9221
1548-9213
10.1152/physiol.00008.2020
2-s2.0-85092886147
Autor
University of Washington School of Medicine
Universidade Estadual Paulista (Unesp)
Ann & Robert H. Lurie Children’s Hospital of Chicago
Northwestern University Feinberg School of Medicine
Institución
Resumen
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.