The Human Mitochondrial Genome: From Basic Biology to Disease

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.

Fully examines recent advances and technological innovations in the field, enabling new mtDNA studies, variant and mutation identification, pathogenic assessment, and therapiesDisease discussion accompanied by diagnostic and therapeutic strategies currently implemented clinicallyOutlines and discusses essential research protocols and perspectives for young scientists to pick upFeatures an international team of authoritative contributors from basic biologists to clinician-scientists

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