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The glucose transporter type 1 deficiency syndrome: new insights into diagnosis, pathogenicity, and treatment.

Wong Hei Yi. / Thesis (M.Phil.)--Chinese University of Hong Kong, 2004. / Includes bibliographical references (leaves 157-175). / Abstracts in English and Chinese. / Acknowledgements --- p.i / Abstract --- p.ii / Abstract 摘要 --- p.iv / List of Figures --- p.vi / List of Tables --- p.ix / List of Abbreviations --- p.x / Table of Contents --- p.xiii / Chapter Chapter 1: --- Introduction --- p.1 / Chapter 1.1 --- Importance of Glucose in Biological System --- p.1 / Chapter 1.2 --- Glucose Transporter Families --- p.2 / Chapter 1.2.1 --- Na+-Dependent Glucose Transporters --- p.2 / Chapter 1.2.2 --- Facilitative Glucose Transporters --- p.3 / Chapter 1.3 --- Glucose Transporter Type1 --- p.7 / Chapter 1.3.1 --- Primary Structure --- p.7 / Chapter 1.3.2 --- Secondary Structure --- p.8 / Chapter 1.3.3 --- Membrane Topology --- p.8 / Chapter 1.3.4 --- Tertiary Structure --- p.9 / Chapter 1.3.5 --- Kinetics Properties --- p.11 / Chapter 1.3.6 --- Affinity Reagents --- p.12 / Chapter 1.3.7 --- Tissue Distribution --- p.13 / Chapter 1.3.8 --- Multifunctional Property --- p.14 / Chapter 1.3.9 --- Characterization of GLUT1 Gene --- p.14 / Chapter 1.3.10 --- Regulation of GLUT1 Expression --- p.15 / Chapter 1.4 --- Glucose Transporter Type 1 and the Brain --- p.17 / Chapter 1.5 --- Glucose Transporter Type 1 Deficiency Syndrome --- p.20 / Chapter 1.5.1 --- Background of GlutlDS --- p.20 / Chapter 1.5.2 --- Clinical Features of GlutlDS --- p.23 / Chapter 1.5.3 --- Genotype-Phenotype Correlations --- p.24 / Chapter 1.5.4 --- Diagnosis --- p.26 / Chapter 1.5.4.1 --- Erythrocyte Glucose Transporter Activity --- p.26 / Chapter 1.5.4.2 --- Molecular Genetic Testing of GLUT1 Gene --- p.27 / Chapter 1.5.4.3 --- Glucose Concentration --- p.27 / Chapter 1.5.5 --- Management --- p.28 / Chapter 1.5.5.1 --- Ketogenic Diet --- p.28 / Chapter 1.5.5.2 --- Medication --- p.29 / Chapter 1.5.5.2.1 --- Glutl Activator --- p.29 / Chapter 1.5.5.2.2 --- Glutl Inhibitor --- p.29 / Chapter 1.6 --- Hypothesis and Objectives --- p.31 / Chapter Chapter 2: --- Identification of the First Two Asian GlutlDS Cases --- p.33 / Chapter 2.1 --- Materials --- p.34 / Chapter 2.1.1 --- Clinical History of Suspected GlutlDS Patients --- p.34 / Chapter 2.1.2 --- Blood Samples --- p.35 / Chapter 2.1.3 --- Reagents for Zero-trans Influx of 3-OMG Uptake in Erythrocytes --- p.35 / Chapter 2.1.4 --- Reagents for Zero-trans Efflux of 3-OMG Uptake in Erythrocytes --- p.37 / Chapter 2.1.5 --- Reagents for Glutl Gene Analysis --- p.37 / Chapter 2.1.6 --- Reagents and Buffers for Reverse Transcription --- p.38 / Chapter 2.1.7 --- Reagents and Buffers for Agarose Gel Electrophoresis --- p.39 / Chapter 2.1.8 --- Reagents for Erythrocytes Membrane Preparation and Detection --- p.41 / Chapter 2.2 --- Methods --- p.46 / Chapter 2.2.1 --- Zero-trans Influx of 3-OMG Uptake in Erythrocytes --- p.46 / Chapter 2.2.2 --- Zero-trans Efflux of 3-OMG out of Erythrocytes --- p.47 / Chapter 2.2.3 --- Glutl Protein Expression --- p.48 / Chapter 2.2.4 --- GLUT1 Gene Analyses --- p.51 / Chapter 2.2.5 --- Statistics --- p.58 / Chapter 2.3 --- Results --- p.59 / Chapter 2.4 --- Discussions and Conclusions --- p.69 / Chapter Chapter 3: --- Pathogenicity of GLUT1 Mutations --- p.78 / Chapter 3.1 --- Materials --- p.79 / Chapter 3.1.1 --- Construction of Glutl-Encoding Vectors --- p.79 / Chapter 3.1.2 --- Cell Lines --- p.80 / Chapter 3.1.3 --- "Cell Culture Media, Buffers and Other Reagents" --- p.81 / Chapter 3.1.4 --- Cell Culture Wares --- p.83 / Chapter 3.1.5 --- Reagents for Transfection --- p.83 / Chapter 3.1.6 --- Reagents for Protein Determination and Western Blot Analysis --- p.83 / Chapter 3.1.7 --- Reagents and Buffers for Flow Cytometry --- p.84 / Chapter 3.1.8 --- Reagents for 2-DOG Uptake in CHO-K1 Cells --- p.84 / Chapter 3.1.9 --- Reagents and Consumables for Confocal Microscopy --- p.85 / Chapter 3.2 --- Methods --- p.86 / Chapter 3.2.1 --- Cell Culture Methodology --- p.86 / Chapter 3.2.2 --- Construction of Glutl-Encoding Vectors --- p.87 / Chapter 3.2.3 --- Construction of Glutl Mutants --- p.91 / Chapter 3.2.4 --- Establishment of Wild Type and Mutant Glutl Expressing Cell Lines --- p.92 / Chapter 3.2.5 --- Glucose Influx Assays in CHO-K1 Cells --- p.96 / Chapter 3.2.6 --- Confocal Microscopy Studies on Glutl Cellular Localization --- p.97 / Chapter 3.2.7 --- Statistics --- p.98 / Chapter 3.3 --- Results --- p.99 / Chapter 3.4 --- Discussions and Conclusions --- p.112 / Chapter Chapter 4: --- Effects of Anticonvulsive Compounds on Cellular Glucose Transport --- p.117 / Chapter 4.1 --- Materials --- p.118 / Chapter 4.1.1 --- Cell Lines --- p.118 / Chapter 4.1.2 --- Cell Culture Media --- p.118 / Chapter 4.1.3 --- Blood Sample --- p.119 / Chapter 4.1.4 --- Anticonvulsive Compounds --- p.119 / Chapter 4.1.5 --- Reagents for Zero-trans Influx of 3-OMG Uptake in Fibroblasts --- p.120 / Chapter 4.1.6 --- Reagents for Zero-trans Influx of 2-DOG Uptake in Primary Astrocytes --- p.120 / Chapter 4.1.7 --- Reagents for Total RNA Isolation --- p.121 / Chapter 4.1.8 --- Reagents and Consumables for Real-Time PCR --- p.122 / Chapter 4.2 --- Methods --- p.123 / Chapter 4.2.1 --- Cell Culture --- p.123 / Chapter 4.2.2 --- Drug Concentrations --- p.123 / Chapter 4.2.3 --- Zero-trans Influx of 3-OMG Uptake in Erythrocytes --- p.123 / Chapter 4.2.4 --- Zero-trans Influx of 3-OMG Uptake in Fibroblasts --- p.124 / Chapter 4.2.5 --- Zero-trans Influx of 2-DOG Uptake in Primary Astrocytes --- p.125 / Chapter 4.2.6 --- Gene Expression Study --- p.127 / Chapter 4.2.7 --- Statistics --- p.130 / Chapter 4.3 --- Results --- p.131 / Chapter 4.4 --- Discussions and Conclusions --- p.148 / Chapter Chapter 5: --- General Conclusions and Future Perspectives --- p.154 / References --- p.157

Identiferoai:union.ndltd.org:cuhk.edu.hk/oai:cuhk-dr:cuhk_324602
Date January 2004
ContributorsWong, Hei Yi., Chinese University of Hong Kong Graduate School. Division of Biochemistry.
Source SetsThe Chinese University of Hong Kong
LanguageEnglish, Chinese
Detected LanguageEnglish
TypeText, bibliography
Formatprint, xvi, 175 leaves : ill. ; 30 cm.
RightsUse of this resource is governed by the terms and conditions of the Creative Commons “Attribution-NonCommercial-NoDerivatives 4.0 International” License (http://creativecommons.org/licenses/by-nc-nd/4.0/)

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