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TitleMitochondrial Disorders [electronic resource] : Biochemical and Molecular Analysis
Author edited by Lee-Jun C. Wong, Ph.D
ImprintTotowa, NJ : Humana Press, 2012
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Descript XI, 352 p. 56 illus., 14 illus. in color. online resource


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


Mitochondrial DNA Mutations: An Overview of Clinical and Molecular Aspects -- Nuclear Gene Defects in Mitochondrial Disorders -- Diagnostic Challenges of Mitochondrial Disorders: Complexities of Two Genomes -- Biochemical Analyses of the Electron Transport Chain Complexes by Spectrophotometry -- Measurement of Mitochondrial Oxygen Consumption Using A Clark Electrode -- Mitochondrial Respiratory Chain: Biochemical Analysis and Criterion for Deficiency in Diagnosis -- Assays of Pyruvate Dehydrogenase Complex and Pyruvate Carboxylase Activity -- Assessment of Thymidine Phosphorylase Function: Measurement of Plasma Thymidine (and Deoxyuridine) and Thymidine Phosphosphorylase Activity -- Measurement of Mitochondrial dNTP Pools -- Measurement of Oxidized and Reduced Coenzyme Q in Biological Fluids, Cells, and Tissues: An HPLC-EC Method -- Assay to Measure Oxidized and Reduced Forms of CoQ by LC-MS/MS -- Morphological Assessment of Mitochondrial Respiratory Chain Function on Tissue Sections -- Blue Native Polyacrylamide Gel Electrophoresis: A Powerful Diagnostic Tool for the Detection of Assembly Defects in the Enzyme Complexes of Oxidative Phosphorylation -- Radioactive Labeling of Mitochondrial Translation Products in Cultured Cells -- Transmitochondrial Cybrids: Tools for Functional Studies of Mutant Mitochondria -- Fluorescence-Activated Cell Sorting Analysis of Mitochondrial Content, Membrane Potential, and Matrix Oxidant Burden in Human Lymphoblastoid Cell Lines -- Molecular Profiling of Mitochondrial Dysfunction in Caenorhabditis elegans -- Analysis of Common Mitochondrial DNA Mutations by Allele-Specific Oligonucleotide and Southern Blot Hybridization -- Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders -- Utility of Array CGH in Molecular Diagnosis of Mitochondrial Disorders -- Quantification of mtDNA Mutation Heteroplasmy (ARMS qPCR) -- Measurement of Mitochondrial DNA Copy Number -- Determination of the Clinical Significance of an Unclassified Variant

Life sciences Laboratory medicine Cell biology Life Sciences Cell Biology Laboratory Medicine


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