The neural circuit basis of Rett syndrome

Abstract

Rett syndrome is an Autism Spectrum Disorder caused by mutations in the gene encoding methyl-CpG binding protein (MeCP2). Following a period of normal development, patients lose learned communication and motor skills, and develop a number of symptoms including motor disturbances, cognitive impairments and often seizures. In this review, we discuss the role of MeCP2 in regulating synaptic function and how synaptic dysfunctions lead to neuronal network impairments and alterations in sensory information processing. We propose that Rett syndrome is a disorder of neural circuits as a result of non-linear accumulated dysfunction of synapses at the level of individual cell populations across multiple neurotransmitter systems and brain regions.

Keywords

Rett syndrome / MeCP2 / neural circuit / ERP / synapse

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Acknowledgements

This work was supported by NIH grant NS058391(ZZ) and International Rett Syndrome Foundation (ZZ and DG). Z.Z. is a Pew Scholar in Biomedical Science.

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2014 Higher Education Press and Springer-Verlag Berlin Heidelberg