The Human Mitochondrial Genome

The Human Mitochondrial Genome

From Basic Biology to Disease

1st Edition - July 23, 2020

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  • Editors: Giuseppe Gasparre, Anna Porcelli
  • Paperback ISBN: 9780128196564
  • eBook ISBN: 9780128226421

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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

Product details

  • No. of pages: 596
  • Language: English
  • Copyright: © Academic Press 2020
  • Published: July 23, 2020
  • Imprint: Academic Press
  • Paperback ISBN: 9780128196564
  • eBook ISBN: 9780128226421

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 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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