Mitochondrial Disorders

Biochemical and Molecular Analysis

Editors:

ISBN: 978-1-61779-503-9 (Print) 978-1-61779-504-6 (Online)

Table of contents (23 protocols)

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  1. Front Matter

    Pages i-xi

  2. Mitochondrial Disorder: A Complex Disease of the Two Genomes

    1. Front Matter

      Pages 1-1

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      Pages 3-15

      Mitochondrial DNA Mutations: An Overview of Clinical and Molecular Aspects

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      Pages 17-34

      Nuclear Gene Defects in Mitochondrial Disorders

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      Pages 35-46

      Diagnostic Challenges of Mitochondrial Disorders: Complexities of Two Genomes

  3. Biochemical Analysis of Mitochondrial Disorders

    1. Front Matter

      Pages 47-47

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      Pages 49-62

      Biochemical Analyses of the Electron Transport Chain Complexes by Spectrophotometry

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      Pages 63-72

      Measurement of Mitochondrial Oxygen Consumption Using a Clark Electrode

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      Pages 73-91

      Mitochondrial Respiratory Chain: Biochemical Analysis and Criterion for Deficiency in Diagnosis

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      Pages 93-119

      Assays of Pyruvate Dehydrogenase Complex and Pyruvate Carboxylase Activity

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      Pages 121-133

      Assessment of Thymidine Phosphorylase Function: Measurement of Plasma Thymidine (and Deoxyuridine) and Thymidine Phosphorylase Activity

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      Pages 135-148

      Measurement of Mitochondrial dNTP Pools

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      Pages 149-168

      Measurement of Oxidized and Reduced Coenzyme Q in Biological Fluids, Cells, and Tissues: An HPLC-EC Method

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      Pages 169-179

      Assay to Measure Oxidized and Reduced Forms of CoQ by LC–MS/MS

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      Pages 181-194

      Morphological Assessment of Mitochondrial Respiratory Chain Function on Tissue Sections

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      Pages 195-206

      Blue Native Polyacrylamide Gel Electrophoresis: A Powerful Diagnostic Tool for the Detection of Assembly Defects in the Enzyme Complexes of Oxidative Phosphorylation

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      Pages 207-217

      Radioactive Labeling of Mitochondrial Translation Products in Cultured Cells

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      Pages 219-230

      Transmitochondrial Cybrids: Tools for Functional Studies of Mutant Mitochondria

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      Pages 231-239

      Fluorescence-Activated Cell Sorting Analysis of Mitochondrial Content, Membrane Potential, and Matrix Oxidant Burden in Human Lymphoblastoid Cell Lines

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      Pages 241-255

      Molecular Profiling of Mitochondrial Dysfunction in Caenorhabditis elegans

  4. Molecular Analysis of Mitochondrial Disorders

    1. Front Matter

      Pages 257-257

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      Pages 259-279

      Analysis of Common Mitochondrial DNA Mutations by Allele-Specific Oligonucleotide and Southern Blot Hybridization

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      Pages 281-300

      Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders

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      Pages 301-312

      Utility of Array CGH in Molecular Diagnosis of Mitochondrial Disorders

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