Fully examines recent advances and technological innovations in the field, enabling new mtDNA studies, variant and mutation identification, pathogenic assessment, and therapies
Disease discussion accompanied by diagnostic and therapeutic strategies currently implemented clinically
Outlines and discusses essential research protocols and perspectives for young scientists to pick up
Features an international team of authoritative contributors from basic biologists to clinician-scientists
Table Of Contents:
Part 1 – Biology of human mtDNA 1. MtDNA replication, maintenance and nucleoid organization Sjoerd Wanrooij 2. Human mitochondrial transcription and translation Antonio Barrientos 3. Epigenetic features of mitochondrial DNA Takehiro Yasukawa, Shigeru Matsuda and Dongchon Kang 4. Heredity and Segregation of mtDNA Patrick F. Chinnery
Part 2 - MtDNA evolution and exploitation 5. Haplogroups and the history of human evolution through mtDNA Antonio Torroni, Alessandro Achilli, Anna Olivieri and Ornella Semino 6. Human Nuclear mitochondrial Sequences (NumtS) Marcella Attimonelli and Francesco Maria Calabrese 7. MtDNA exploitation in forensics Adriano Tagliabracci and Chiara Turchi
Part 3 – MtDNA mutations 8. Human mitochondrial DNA repair Elaine Ayres Sia and Alexis Stein 9. Mechanisms of onset and accumulation of mtDNA mutations Antonella Spinazzola and Ian Holt Sr. 10. Mitochondrial DNA mutations and ageing Aleksandra Trifunovic, Karolina Szczepanowska 11. Methods for the identification of mitochondrial DNA variants Marcella Attimonelli, Claudia Calabrese, Aurora Gomez Duran and Aurelio Reyes 12. Bioinformatics resources, databases, and tools for human mtDNA Marcella Attimonelli, Marie Lott, Roberto Preste, Douglas C. Wallace, Vincent Procaccio, Shiping Zhang and Ornella Vitale 13. Methods and models for functional studies on mtDNA mutations Luisa Iommarini, Anna Maria Ghelli and Francisca Diaz
Part 4 – MtDNA-determined diseases 14. Mitochondrial DNA point mutation diseases Shamima Rahman and Rob Pitceathly 15. Nuclear genetic disorders of mitochondrial DNA gene expression Robert W. Taylor 16. mtDNA maintenance: disease and therapy Caterina Garone 17. MtDNA mutations in cancer Ivana Kurelac, Giuseppe Gasparre, Giulia Girolimetti, Monica De Luise and Anna Maria Porcelli 18. MitoTALENs for mtDNA editing Carlos Moraes and Sandra Bacman 19. Mitochondrially-Targeted Zinc Finger Nucleases Michal Minczuk 20. Mitochondrial movement between mammalian cells: an emerging physiological phenomenon Michael V. Berridge