Modeling Rett Syndrome Using Human Induced Pluripotent Stem Cells

Title:Modeling Rett Syndrome Using Human Induced Pluripotent Stem Cells

Volume: 15 Issue: 5

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

Affiliation:

Keywords: Autism, drug screening, human induced pluripotent stem cells (hiPSCs), methyl-CpG binding protein 2 (MeCP2), neural differentiation, Rett syndrome.

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.

Cite this article as:

Andoh-Noda Tomoko, O. Inouye Michiko, Miyake Kunio, Kubota Takeo, Okano Hideyuki and Akamatsu Wado, Modeling Rett Syndrome Using Human Induced Pluripotent Stem Cells, CNS & Neurological Disorders - Drug Targets 2016; 15 (5) . https://dx.doi.org/10.2174/1871527315666160413120156