Due to the complexity of the mitochondrial system and the myriad genes involved in their function, the clinical manifestations of mitochondrial diseases are remarkably variable and heterogeneous. The laboratory and clinical methodologies used to evaluate dysfunction may vary widely, and thusly a systematic presentation of the numerous protocols that are applied to the assessment of these clinically and genetically heterogeneous disorders has proven to be essential.  Mitochondrial Disorders: Biochemical and Molecular Analysis strives to fill this need with a collection of key protocols provided by leading experts in the field.  Beginning with overviews of complexity of mitochondrial and nuclear genome disorders, the book continues with a section devoted to current biochemical protocols and a part focused on the DNA-based approaches used to identify molecular defects.  Written in the highly successful Methods in Molecular Biology series format, chapters contain introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Detailed and authoritative, Mitochondrial Disorders: Biochemical and Molecular Analysis serves as a vital guide to researchers seeking to understand this incredibly complicated type of breakdown in cellular biology.

Hersteller:
Humana Press in Springer Science + Business Media
juergen.hartmann@springer.com
Heidelberger Platz 3
DE 14197 Berlin

InhaltsangabePart 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 Martí, Luis C. López, and Michio Hirano 9. Measurement of Mitochondrial dNTP Pools 19. Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders            Ramon Martí, 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: Too

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 D ...