Mitochondrial disorders : biochemical and molecular analysis

Part I: Mitochondrial Disorder: A Complex Disease of the Two Genomes 1. Mitochondrial DNA Mutations: An Overview of Clinical and Molecular Aspects William J. Craigen 2. Nuclear Gene Defects in Mitochondrial Disorders Fernando Scaglia 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders 3. Diagnostic Challenges of Mitochondrial Disorders: Complexities of Two Genomes Brett H. Graham Part II: Biochemical Analysis of Mitochondrial Disorders 4. Biochemical Analyses of the Electron Transport Chain Complexes by Spectrophotometry 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Ann E. Frazier and David R. Thorburn 5. Measurement of Mitochondrial Oxygen Consumption Using A Clark Electrode Zhihong Li and Brett H. Graham 6. Mitochondrial Respiratory Chain: Biochemical Analysis and Criterion for Deficiency in Diagnosis 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Manuela M. Grazina 7. Assays of Pyruvate Dehydrogenase Complex and Pyruvate Carboxylase Activity 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Douglas Kerr, George Grahame, and Ghunwa Nakouzi 8. Assessment of Thymidine Phosphorylase Function: Measurement of Plasma Thymidine (and Deoxyuridine) and Thymidine Phosphosphorylase Activity 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Ramon Marti, Luis C. Lopez, and Michio Hirano 9. Measurement of Mitochondrial dNTP Pools 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Ramon Marti, Beatriz Dorado, and Michio Hirano 10. Measurement of Oxidized and Reduced Coenzyme Q in Biological Fluids, Cells, and Tissues: An HPLC-EC Method 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Peter H. Tang and Michael V. Miles 11. Assay to Measure Oxidized and Reduced Forms of CoQ by LC-MS/MS 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Si Houn Hahn, Sandra Kerfoot, and Valeria Vasta 12. Morphological Assessment of Mitochondrial Respiratory Chain Function on Tissue Sections 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Kurenai Tanji 13. Blue Native Polyacrylamide Gel Electrophoresis: A Powerful Diagnostic Tool for the Detection of Assembly Defects in the Enzyme Complexes of Oxidative Phosphorylation 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Scot C. Leary 14. Radioactive Labeling of Mitochondrial Translation Products in Cultured Cells 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Florin Sasarman and Eric A. Shoubridge 15. Transmitochondrial Cybrids: Tools for Functional Studies of Mutant Mitochondria 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Sajna Antony Vithayathil, Yewei Ma, and Benny Abraham Kaipparettu 16. Fluorescence-Activated Cell Sorting Analysis of Mitochondrial Content, Membrane Potential, and Matrix Oxidant Burden in Human Lymphoblastoid Cell Lines 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Stephen Dingley, Kimberly A. Chapman, and Marni J. Falk 17. Molecular Profiling of Mitochondrial Dysfunction in Caenorhabditis elegans 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Erzsebet Polyak, Zhe Zhang, and Marni J. Falk Part III: Molecular Analysis of Mitochondrial Disorders 18. Analysis of Common Mitochondrial DNA Mutations by Allele-Specific Oligonucleotide and Southern Blot Hybridization 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Sha Tang, Michelle C. Halberg, Kristen C. Floyd, and Jing Wang Megan L. Landsverk, Megan E. Cornwell, and Meagan E. Palculict 20. Utility of Array CGH in Molecular Diagnosis of Mitochondrial Disorders Jing Wang and Mrudula Rakhade 21. Quantification of mtDNA Mutation Heteroplasmy (ARMS qPCR) Victor Venegas and Michelle C. Halberg 22. Measurement of Mitochondrial DNA Copy Number Victor Venegas and Michelle C. Halberg 23. Determination of the Clinical Significance of an Unclassified Variant Victor Wei Zhang and Jing Wang 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders Megan L. Landsverk, Megan E. Cornwell, and Meagan E. Palculict 20. Utility of Array CGH in Molecular Diagnosis of Mitochondrial Disorders Jing Wang and Mrudula Rakhade 21. Quantification of mtDNA Mutation Heteroplasmy (ARMS qPCR) Victor Venegas and Michelle C. Halberg 22. Measurement of Mitochondrial DNA Copy Number Victor Venegas and Michelle C. Halberg 23. Determination of the Clinical Significance of an Unclassified Variant Victor Wei Zhang and Jing Wang