Modeling Rett Syndrome Using Human Induced Pluripotent Stem Cells

被引：7

作者：

Andoh-Noda, Tomoko ^{[1
]}

Inouye, Michiko O. ^{[1
]}

Miyake, Kunio ^{[2
]}

Kubota, Takeo ^{[2
]}

Okano, Hideyuki ^{[1
]}

Akamatsu, Wado ^{[3
]}

机构：

[1] Keio Univ, Dept Physiol, Sch Med, Tokyo, Japan

[2] Univ Yamanashi, Dept Epigenet Med, Fac Med, Kofu, Yamanashi, Japan

[3] Juntendo Univ, Ctr Genom & Regenerat Med, Sch Med, Tokyo, Japan

来源：

CNS & NEUROLOGICAL DISORDERS-DRUG TARGETS | 2016年 / 15卷 / 05期

基金：

日本科学技术振兴机构; 日本学术振兴会;

关键词：

Autism; drug screening; human induced pluripotent stem cells (hiPSCs); methyl-CpG binding protein 2 (MeCP2); neural differentiation; Rett syndrome; CPG-BINDING PROTEIN-2; X-CHROMOSOME INACTIVATION; SEVERE MENTAL-RETARDATION; MOUSE MODEL; MECP2; MUTATIONS; METHYLATED DNA; TRANSCRIPTIONAL REPRESSOR; DIFFERENTIATION PLASTICITY; DEPENDENT PHOSPHORYLATION; NEUROLOGICAL SYMPTOMS;

D O I：

10.2174/1871527315666160413120156

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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.

引用

页码：544 / 550

页数：7

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