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 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
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
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
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
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
Dr. G. Gasparre is a geneticist and member of a worldwide consortium for the annotation of mtDNA variants and the determination of their pathogenicity (MseqDR). He is also co-curator of the Human Mitochondrial Database HmtDB. He has also worked on the catalogue of human NUMTS, and on the use of mtDNA pseudogenes as a phylogenetic marker, exploring and investigating the mtDNA molecule from several point of views, both evolutionary and in diseases, particularly cancer. His research has been funded by the Marie Curie ITN programs of the EU.
Porcelli, Anna Maria
Anna Maria Porcelli is Associate Professor of Biochemistry at the University of Bologna. She conducts her research in the field of cellular biochemistry with particular interest for the role of mitochondria and mitochondrial DNA in the metabolic and hypoxic adaptation during the different stages of tumor progression using cybrid and in vivo models. In particular, she analyzed the functional impact of mtDNA mutations in gene encoded for complex I subunits by using a challenging approach such as the allotopic expression. She is the scientific coordinator of an ITN Marie Curie consortium, funded by the European Community. The main goal of this consortium is to educate and train young students in the cancer metabolism field, with a particular focus on mitochondria in tumor progression.