Modeling Rett Syndrome Using Human Induced Pluripotent Stem Cells

Author(s): Tomoko Andoh-Noda, Michiko O. Inouye, Kunio Miyake, Takeo Kubota, Hideyuki Okano, Wado Akamatsu.

Journal Name: CNS & Neurological Disorders - Drug Targets

Volume 15 , Issue 5 , 2016

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Abstract:

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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Article Details

VOLUME: 15
ISSUE: 5
Year: 2016
Page: [544 - 550]
Pages: 7
DOI: 10.2174/1871527315666160413120156
Price: $58

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