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The Human Mitochondrial Genome - 1st Edition - ISBN: 9780128196564, 9780128226421

The Human Mitochondrial Genome

1st Edition

From Basic Biology to Disease

Editors: Giuseppe Gasparre Anna Maria Porcelli
Paperback ISBN: 9780128196564
eBook ISBN: 9780128226421
Imprint: Academic Press
Published Date: 23rd July 2020
Page Count: 596
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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.

Key Features

  • 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


Active researchers in biochemistry, molecular biology, cell biology, oncology, neurology, neuroscience, and pharmacology; 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


No. of pages:
© Academic Press 2020
23rd July 2020
Academic Press
Paperback ISBN:
eBook ISBN:

About the Editors

Giuseppe Gasparre

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.

Affiliations and Expertise

Department of Medical and Surgical Sciences (DIMEC), Unit of Medical Genetics, University of Bologna, Bologna, Italy Center for Applied Biomedical Research (CRBA), University of Bologna, Bologna, Italy

Anna Maria Porcelli

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.

Affiliations and Expertise

Department of Pharmacy and Biotechnology (FABIT), University of Bologna, Bologna, Italy Interdepartmental Center for Industrial Research Life Sciences and Technologies for Health, University of Bologna, Bologna, Italy

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