(To see other currencies, click on price)
MORE ABOUT THIS BOOK
Main description:
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 (TM) 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.
Contents:
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
PRODUCT DETAILS
Publisher: Springer (Humana Press Inc.)
Publication date: January, 2012
Pages: 363
Weight: 881g
Availability: Available
Subcategories: General Issues, Genetics
From the same series
