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.
CNS & Neurological Disorders - Drug Targets
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.
Export Options
About this article
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
DOI https://dx.doi.org/10.2174/1871527315666160413120156 |
Print ISSN 1871-5273 |
Publisher Name Bentham Science Publisher |
Online ISSN 1996-3181 |
Call for Papers in Thematic Issues
Diagnosis and treatment of central nervous system infectious diseases
Infectious diseases of the central nervous system (CNS) can be divided into bacterial, tuberculous, viral, fungal, parasitic infections, etc. Early etiological treatment is often the most crucial means to reduce the mortality rate of patients with central nervous system infections, reduce complications and sequelae, and improve prognosis. The initial clinical ...read more
Techniques of Drug Repurposing: Delivering a new life to Herbs & Drugs
Of late, with the adaptation of innovative approaches and integration of advancements made towards medical sciences as well as the availability of a wide range of tools; several therapeutic challenges are being translated into viable clinical solutions, with a high degree of efficacy, safety, and selectivity. With a better understanding ...read more
Trends and perspectives in the rational management of CNS disorders
Central nervous system (CNS) diseases enforce a significant global health burden, driving ongoing efforts to improve our understanding and effectiveness of therapy. This issue investigates current advances in the discipline, focusing on the understanding as well as therapeutic handling of various CNS diseases. The issue covers a variety of diseases, ...read more
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
Related Articles
-
Classical Neurotransmitters and Neuropeptides Involved in Generalized Epilepsy: A Focus on Antiepileptic Drugs
Current Medicinal Chemistry Patent Selections:
Recent Patents on Inflammation & Allergy Drug Discovery BACE1 Levels Correlate with Phospho-Tau Levels in Human Cerebrospinal Fluid
Current Alzheimer Research Cutting through the Complexities of mTOR for the Treatment of Stroke
Current Neurovascular Research Pharmacotherapy in Pedatric PTSD: A Developmentally-Focused Review of the Evidence
Current Psychopharmacology Editorial (Thematic Issue: Mitochondrial Biogenesis: Pharmacological Approaches)
Current Pharmaceutical Design Recent Updates on Biological Activities of Oxadiazoles
Mini-Reviews in Medicinal Chemistry Intrinsic Disorder in Male Sex Determination: Disorderedness of Proteins from the Sry Transcriptional Network
Current Protein & Peptide Science An Overview on Chemistry and Biological Importance of Pyrrolidinone
Current Organic Synthesis EEG Source Localization Using a Genetic Algorithm-Based Artificial Neural Network
Recent Patents on Biomedical Engineering (Discontinued) Association of Genetic Polymorphisms of CYP2C9 and VKORC1 with Bleeding Following Warfarin: A Case-Control Study
Current Clinical Pharmacology Effect of Drugs in Cells and Tissues by NMR Spectroscopy
Current Topics in Medicinal Chemistry Synthesis and Biological Evaluation of a New Series of Benzothiazole-Benzothiadiazine Conjugates as Antibacterial Agents
Letters in Drug Design & Discovery Myalgic Encephalomyelitis: Symptoms and Biomarkers
Current Neuropharmacology O-Arylation of Iodophenols with 2-Fluorobenzaldehyde Under Microwave Conditions
Letters in Drug Design & Discovery Recent Patents on Epilepsy Genetics
Recent Patents on DNA & Gene Sequences An Introduction to Molecular Modeling of G-Protein Coupled Receptors
Current Computer-Aided Drug Design Microglia Phenotype Diversity
CNS & Neurological Disorders - Drug Targets Transient Receptor Potential Channels - Emerging Novel Drug Targets for the Treatment of Pain
Current Medicinal Chemistry Using PET Studies of P-gp Function to Elucidate Mechanisms Underlying the Disposition of Drugs
Current Topics in Medicinal Chemistry