Logo - springer
Slogan - springer

Life Sciences - Cell Biology | Mitochondrial Disorders - Biochemical and Molecular Analysis

Mitochondrial Disorders

Biochemical and Molecular Analysis

Series: Methods in Molecular Biology, Vol. 837

Wong, Lee-Jun C. (Ed.)

2012, XI, 352p. 56 illus., 14 illus. in color.

A product of Humana Press
Available Formats:
eBook
Information

Springer eBooks may be purchased by end-customers only and are sold without copy protection (DRM free). Instead, all eBooks include personalized watermarks. This means you can read the Springer eBooks across numerous devices such as Laptops, eReaders, and tablets.

You can pay for Springer eBooks with Visa, Mastercard, American Express or Paypal.

After the purchase you can directly download the eBook file or read it online in our Springer eBook Reader. Furthermore your eBook will be stored in your MySpringer account. So you can always re-download your eBooks.

 
$109.00

(net) price for USA

ISBN 978-1-61779-504-6

digitally watermarked, no DRM

Included Format: PDF and EPUB

download immediately after purchase


learn more about Springer eBooks

add to marked items

Hardcover
Information

Hardcover version

You can pay for Springer Books with Visa, Mastercard, American Express or Paypal.

Standard shipping is free of charge for individual customers.

 
$139.00

(net) price for USA

ISBN 978-1-61779-503-9

free shipping for individuals worldwide

usually dispatched within 3 to 5 business days


add to marked items

  • Presents cutting-edge molecular and biochemical methods of analysis
  • Features detailed, practical laboratory protocols
  • Includes tips from the experts on how to best successfully complete the methods

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.

Content Level » Professional/practitioner

Keywords » Biochemical analysis - DNA-based approaches - Mitochondrial genome - Molecular analysis - Molecular defects - Mutations - Nuclear genome

Related subjects » Biomedical Sciences - Cell Biology

Table of 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 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

Popular Content within this publication 

 

Articles

Read this Book on Springerlink

Services for this book

New Book Alert

Get alerted on new Springer publications in the subject area of Cell Biology.