Excitation and Inhibition Imbalance in Rett Syndrome

A loss of the excitation/inhibition (E/I) balance in the neural circuit has emerged as a common neuropathological feature in many neurodevelopmental disorders. Rett syndrome (RTT), a prevalent neurodevelopmental disorder that affects 1:10,000–15,000 women globally, is caused by loss-of-function muta...

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Vydáno v:	Frontiers in neuroscience Ročník 16; s. 825063
Hlavní autor:	Li, Wei
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Switzerland Frontiers Research Foundation 18.02.2022 Frontiers Media S.A
Témata:	Autism Brain research Convulsions & seizures Coordination excitation/inhibition balance Hyperactivity MeCP2 MeCP2 protein Methyl-CpG binding protein Mutation neurodevelopmental disorder Neurodevelopmental disorders Neuroscience Pathogenesis Rett syndrome Rodents Seizures synaptic transmission MeCP2 synaptic transmission excitation/inhibition balance neurodevelopmental disorder Rett syndrome
ISSN:	1662-453X, 1662-4548, 1662-453X
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Popis
Shrnutí:	A loss of the excitation/inhibition (E/I) balance in the neural circuit has emerged as a common neuropathological feature in many neurodevelopmental disorders. Rett syndrome (RTT), a prevalent neurodevelopmental disorder that affects 1:10,000–15,000 women globally, is caused by loss-of-function mutations in the Methyl-CpG-binding Protein-2 ( Mecp2 ) gene. E/I imbalance is recognized as the leading cellular and synaptic hallmark that is fundamental to diverse RTT neurological symptoms, including stereotypic hand movements, impaired motor coordination, breathing irregularities, seizures, and learning/memory dysfunctions. E/I balance in RTT is not homogeneously altered but demonstrates brain region and cell type specificity instead. In this review, I elaborate on the current understanding of the loss of E/I balance in a range of brain areas at molecular and cellular levels. I further describe how the underlying cellular mechanisms contribute to the disturbance of the proper E/I ratio. Last, I discuss current pharmacologic innervations for RTT and their role in modifying the E/I balance.
Bibliografie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Review-3 content type line 23 This article was submitted to Neurodevelopment, a section of the journal Frontiers in Neuroscience Reviewed by: Wen Zhang, Peking University, China; Xavier Leinekugel, Institut National de la Santé et de la Recherche Médicale (INSERM), France Edited by: Claudia Fuchs, University of Bologna, Italy
ISSN:	1662-453X 1662-4548 1662-453X
DOI:	10.3389/fnins.2022.825063