Mitochondrial Disorders: Biochemical and Molecular Analysis

ISBN-13: 9781493959501 / Angielski / Miękka / 2016 / 353 str.

Lee-Jun C. Wong

Opis

The variability of clinical symptoms in mitochondrial diseases calls for a systematic presentation of the full range of protocols used in their assessment. This volume provides cutting-edge methods of analysis as well as expert guidance on how to apply them.

Spis treści

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 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: 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

Blurb

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.