title: Aberrant redox homoeostasis and mitochondrial dysfunction in Rett syndrome.
abstract: RTT (Rett syndrome) is a severe progressive neurodevelopmental disorder with a monogenetic cause, but complex and multifaceted clinical appearance. Compelling evidence suggests that mitochondrial alterations and aberrant redox homoeostasis result in oxidative challenge. Yet, compared with other severe neuropathologies, RTT is not associated with marked neurodegeneration, but rather a chemical imbalance and miscommunication of neuronal elements. Different pharmacotherapies mediate partial improvement of conditions in RTT, and also antioxidants or compounds improving mitochondrial function may be of potential merit. In the present paper, we summarize findings from patients and transgenic mice that point towards the nature of RTT as a mitochondrial disease. Also, open questions are addressed that require clarification to fully understand and successfully target the associated cellular redox imbalance.
authors.affiliation: *Center for Nanoscale Microscopy and Molecular Physiology of the Brain (CNMPB), Zentrum Physiologie und Pathophysiologie, Institut für Neuro- und Sinnesphysiologie, Georg-August-Universität Göttingen, Universitätsmedizin, Humboldtallee 23, D-37073 Göttingen, Germany.
authors.forename: Michael
authors.initials: M
authors.lastname: Müller
authors.affiliation: *Center for Nanoscale Microscopy and Molecular Physiology of the Brain (CNMPB), Zentrum Physiologie und Pathophysiologie, Institut für Neuro- und Sinnesphysiologie, Georg-August-Universität Göttingen, Universitätsmedizin, Humboldtallee 23, D-37073 Göttingen, Germany.
authors.forename: Karolina
authors.initials: K
authors.lastname: Can
mesh_terms: D000818:Animals; D006801:Humans; D008928:Mitochondria / Q000378:metabolism; D028361:Mitochondrial Diseases / Q000378:metabolism; D010084:Oxidation-Reduction; D017382:Reactive Oxygen Species / Q000378:metabolism; D015518:Rett Syndrome / Q000378:metabolism*
chemical_list: D017382:Reactive Oxygen Species