Format:
Online-Ressource (XII, 369 p. 32 illus., 20 illus. in color, digital)
ISBN:
9781461437222
Series Statement:
SpringerLink
Content:
Mitochondrial cytopathies are mutations in the inherited maternal mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clinically heterogeneous diseases, due to the fact that protein components of the respiratory chain are encoded by both mitochondrial and nuclear genomes and are essential in all cells. In addition, the biogenesis, structure and function of mitochondria, including DNA replication, transcription, and translation, all require nuclear encoded genes. Since mitochondria are present in every cell, every tissue, mitochondrial disorder usually affects multiple organs.
Note:
Description based upon print version of record
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Contents; Contributors; Part I Overview; Chapter 1 The Clinical Spectrum of Nuclear DNA-Related Mitochondrial Disorders; Introduction; General Clinical Considerations; The Clinical Spectrum; Mutations in RC Subunits (``Direct Hits''); Mutations in RC Ancillary Proteins (``Indirect Hits''); Defects of Intergenomic Communication; Defects of the Lipid Milieu; Conclusion; References; Chapter 2 Biochemical and Molecular Methods for the Study of Mitochondrial Disorders; Introduction; Diagnostic Criteria and Diagnostic Algorithms
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Criteria for the Diagnosis of Mitochondrial Respiratory Chain DisordersDiagnostic Algorithms; Biochemical Assessment; Lactic Acid and Pyruvate; Plasma/CSF Amino Acids; Urine Organic Acid; Carnitine and Acylcarnitine; Histochemistry and Immunohistochemistry; Electron Microscopy (EM); Assay of Electron Transport Chain Activities (ETC); Oxygen Consumption Rate (OCR); Analysis of Respiratory Chain Protein Complexes using Blue Native Gel; Coenzyme Q10 (CoQ10); Molecular Evaluation; Analysis of Alterations in the Mitochondrial Genome; Detection of Recurrent Common Mutations
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Detection of Rare or Unknown Point Mutations in the Mitochondrial GenomeQuantification of the Point Mutation Heteroplasmy; Detection of Large mtDNA Deletions; Measurement of mtDNA Copy Number; Comprehensive One-Step Analysis of the Mitochondrial Genome; Analysis of Nuclear Genes Causing Mitochondrial Disorders; Sanger Sequencing; Oligonucleotide Array Comparative Genomic Hybridization (aCGH); Next-Generation Massively Parallel Sequencing; Interpretation of Sequence Variants; Conclusion; References
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Part II Genes Involved in Mitochondrial DNA Biogenesis and Maintenance of Mitochondrial DNA IntegrityChapter 3Mitochondrial Disorders Associated with theMitochondrial DNA Polymerase γ: A Focus onIntersubunit Interactions; Introduction; Structure of the Pol g Homodimeric Accessory Subunit, p552; Structure of the Heterotrimeric Pol g Apoenzyme, p140-p552; POLG2Mutations Associated with Mitochondrial Disease, p552; G451E p55 (c.1352G〉A, Exon 8); P205R p55 (c.614C〉G, Exon 2); R369G p55 (c.1105A〉G, Exon 5); L475DfsX2 p55 (c.1423_1424delTT, Exon 8)
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(A169T-)dV398-K431 p55 (c.505G〉A, Exon 1 and c.1207_1208ins24, Exon 7)Contributions of p552 to Balancing DNA Polymerase and Exonuclease Activities; POLG Mutations that Disrupt Interactions with p552 and are Associated with Mitochondrial Disease; A467T p140 (c.1399G〉A, Exon 7); Arg 232 Variants; R232G p140 (c.694C〉G, Exon 3); R232H p140 (c.695G〉A, Exon 3); POLG Mutations Associated with Arg232 Variants; T251I and P587L p140 (c.752C〉T, Exon 3 and c.1760C〉T, Exon 10); W748S and E1143G p140 (c.2243G〉C, Exon 13 and c.3428A〉G, Exon 21); G848S p140 (c.2542G〉A, Exon 16)
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Conservation of Pol γ Amino Acid Residues
Additional Edition:
ISBN 9781461437215
Additional Edition:
Buchausg. u.d.T. ISBN 978-1-461-43721-5
Language:
English
DOI:
10.1007/978-1-4614-3722-2
URL:
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