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Full Description
The Human Mitochondrial Genome: From Basic Biology to Disease offers a comprehensive, up-to-date examination of human mitochondrial genomics, connecting basic research to translational medicine across a range of disease types. Here, international experts discuss the essential biology of human mitochondrial DNA (mtDNA), including its maintenance, repair, segregation, and heredity. Furthermore, mtDNA evolution and exploitation, mutations, methods, and models for functional studies of mtDNA are dealt with. Disease discussion is accompanied by approaches for treatment strategies, with disease areas discussed including cancer, neurodegenerative, age-related, mtDNA depletion, deletion, and point mutation diseases. Nucleosides supplementation, mitoTALENs, and mitoZNF nucleases are among the therapeutic approaches examined in-depth.
With increasing funding for mtDNA studies, many clinicians and clinician scientists are turning their attention to mtDNA disease association. This book provides the tools and background knowledge required to perform new, impactful research in this exciting space, from distinguishing a haplogroup-defining variant or disease-related mutation to exploring emerging therapeutic pathways.
Contents
Part 1 - Biology of human mtDNA
1. MtDNA replication, maintenance and nucleoid organization
2. Human mitochondrial transcription and translation
3. Epigenetic features of mitochondrial DNA
4. Heredity and Segregation of mtDNA
Part 2 - MtDNA evolution and exploitation
5. Haplogroups and the history of human evolution through mtDNA
6. Human Nuclear mitochondrial Sequences (NumtS)
7. MtDNA exploitation in forensics
Part 3 - MtDNA mutations
8. Human mitochondrial DNA repair
9. Mechanisms of onset and accumulation of mtDNA mutations
10. Mitochondrial DNA mutations and ageing
11. Methods for the identification of mitochondrial DNA variants
12. Bioinformatics resources, databases, and tools for human mtDNA
13. Methods and models for functional studies on mtDNA mutations
Part 4 - MtDNA-determined diseases
14. Mitochondrial DNA point mutation diseases
15. Nuclear genetic disorders of mitochondrial DNA gene expression
16. mtDNA maintenance: disease and therapy
17. MtDNA mutations in cancer
18. MitoTALENs for mtDNA editing
19. Mitochondrially-Targeted Zinc Finger Nucleases
20. Mitochondrial movement between mammalian cells: an emerging physiological phenomenon
