The Human Mitochondrial Genome: From Basic Biology to Disease, ISBN-13: 978-0128196564

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.