Rett syndrome (RTT) is one of a group of neurodevelopmental disorders typically characterized
by deficits in the X-linked gene MECP2 (methyl-CpG binding protein 2). The MECP2 gene
encodes a multifunctional protein involved in transcriptional repression, transcriptional activation,
chromatin remodeling, and RNA splicing. Genetic deletion of Mecp2 in mice revealed neuronal disabilities
including RTT-like phenotypes and provided an excellent platform for understanding the
pathogenesis of RTT. So far, there are no effective pharmacological treatments for RTT because the role of MECP2 in
RTT is incompletely understood. Recently, human induced pluripotent stem cell (hiPSC) technologies have improved our
knowledge of neurological and neurodevelopmental diseases including RTT because neurons derived from RTT-hiPSCs
can be used for disease modeling to understand RTT phenotypes and to perform high throughput pharmaceutical drug
screening. In this review, we provide an overview of RTT, including MeCP2 function and mouse models of RTT. In addition,
we introduce recent advances in disease modeling of RTT using hiPSC-derived neural cells.
Keywords: Autism, drug screening, human induced pluripotent stem cells (hiPSCs), methyl-CpG binding protein 2 (MeCP2),
neural differentiation, Rett syndrome.
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