The Human Mitochondrial Genome: From Basic Biology to Disease

The Human Mitochondrial Genome: From Basic Biology to Disease

Gasparre, Giuseppe
Porcelli, Anna Maria

171,60 €(IVA inc.)

In recent years, the human mitochondrial chromosome has been shown to be a hub for cell metabolism and a key regulator of disease. While international efforts are in process to standardize methods for mtDNA study, sequencing, and assessment of pathogenicity, the peculiar features and noncanonical behavior of the mitochondrial chromosome present unique challenges. However, with recent advances in sequencing technology, new, innovative approaches are available to study mtDNA disease associations, and manipulate mtDNA to correct disease conditions. With The Human Mitochondrial Chromosome, Editors Giuseppe Gasparre and Anna Maria Porcelli offer a comprehensive, up-to-date examination of human mitochondrial genomics, connecting basic research to translational medicine across a range of disease types. Here, more than twenty international experts discuss the essential biology of human mtDNA, including MtDNA repair, maintenance, segregation, and heredity, as well as mtDNA evolution and exploitation, mtDNA mutations, methods, and models for functional studies of mtDNA. Disease discussion is accompanied by approaches for therapeutic innovation, diagnostic, and treatment strategies, with disease areas discussed including cancer, neurodegenerative, age-related, mtDNA depletion, deletion, and point mutation diseases. Allotopic expression and mitochondrial gene therapy, 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. The Human Mitochondrial Chromosome 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 clinicallyFeatures an international team of authoritative contributors, from basic biologists to clinician-scientists INDICE: Part 1 Biology of human mtDNA 1. Replication, nucleoid organization and related methodologies 2. Transcription/translation of mtDNA and related methodologies 3. MtDNA repair 4. Maintenance, segregation and heredity of mtDNA Part 2  mtDNA evolution and exploitation 5. Haplogroups and the history of human evolution through mtDNA 6. Nuclear Micothondrial Sequences (NUMTS) 7. Evolution of mtDNA and adaptation 8. MtDNA exploitation in forensics Part 3 mtDNA mutations 9. Mechanisms of onset and accumulation of mtDNA mutations 10. Identification, annotation and pathogenicity determination of mtDNA mutations (databases and open resources) 11. Methods and models for functional studies on mtDNA mutations Part 4 MtDNA-determined diseases 12. MtDNA and ageing 13. MtDNA depletion diseases 14. MtDNA deletions diseases 15. MtDNA point mutations diseases 16. MtDNA in non-mitochondrial diseases 17. MtDNA mutations as modifiers in cancer Part 5 MtDNA manipulation and therapy 18. Allotopic expression and mitochondrial gene therapy 19. mitoTALENs 20. mitoZNF nucleases Part 6 Emerging topics on mtDNA 21. Mitochondrial-nuclear integrative genomics 22. Epigenetic features of mtDNA 23. Mitochondrial DNA replacement 24. Horizontal transfer of mtDNA

  • ISBN: 978-0-12-819656-4
  • Editorial: Academic Press
  • Encuadernacion: Rústica
  • Páginas: 448
  • Fecha Publicación: 01/08/2020
  • Nº Volúmenes: 1
  • Idioma: Inglés