Mitochondrial Genes
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The Human Mitochondrial Genome
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Author : Giuseppe Gasparre
language : en
Publisher: Academic Press
Release Date : 2020-07-23
The Human Mitochondrial Genome written by Giuseppe Gasparre and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-07-23 with Science categories.
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
Mitochondrial Genes
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Author : Piotr Slonimski
language : en
Publisher:
Release Date : 1982
Mitochondrial Genes written by Piotr Slonimski and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1982 with Science categories.
Human Mitochondrial Dna And The Evolution Of Homo Sapiens
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Author : Hans-Jürgen Bandelt
language : en
Publisher: Springer Science & Business Media
Release Date : 2006-09-05
Human Mitochondrial Dna And The Evolution Of Homo Sapiens written by Hans-Jürgen Bandelt and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2006-09-05 with Medical categories.
Mitochondrial DNA is one of the most closely explored genetic systems, because it can tell us so much about the human past. This book takes a unique perspective, presenting the disparate strands that must be tied together to exploit this system. From molecular biology to anthropology, statistics to ancient DNA, this first volume of three presents a comprehensive global picture and a critical appraisal of human mitochondrial DNA variation.
Mitochondrial Dna Mitochondria Disease And Stem Cells
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Author : Justin C. St. John
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-09-26
Mitochondrial Dna Mitochondria Disease And Stem Cells written by Justin C. St. John and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-09-26 with Science categories.
This volume investigates how the mitochondrial genome is transmitted, segregated, and inherited. It starts by describing mtDNA mutations and deletions and how these impact on the offspring’s well-being. It progresses to discuss how mutations to the mtDNA-nuclear-encoded transcription, replication and translational factors lead to mtDNA-depletion syndromes and how these affect cellular function and lead to the pathology of human mitochondrial disease. It also highlights the importance of the mitochondrial assembly factors and how mutations to these can lead to mitochondrial disease. The reader is then introduced to how mtDNA is transmitted through the oocyte and how stem cells can be used to study mitochondrial biogenesis and mtDNA replication and transcription in undifferentiated pluripotent and differentiating cells and how mitochondria adapt during this process. It then discusses how diseases like cancer are initiated and regulated by mutations to mitochondrial DNA and dysfunctional mitochondria. Finally, it draws on assisted reproductive technologies to discuss how some of these approaches might be adapted to prevent the transmission of mutant and deleted mtDNA from one generation to the next.
Mitochondrial Dna
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Author : Herve Seligmann
language : en
Publisher: BoD – Books on Demand
Release Date : 2018-10-31
Mitochondrial Dna written by Herve Seligmann and has been published by BoD – Books on Demand this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-10-31 with Medical categories.
The very short genomes of mitochondria summarize the complexity of molecular biology and its interactions with cellular and whole organism biology. Studies of mitogenomes contribute to the understanding of molecular biology and evolution, and to health management. Despite or even due to their small sizes, mitogenomes continue to surprise us. Studies of mitogenomes reveal the details of molecular organization and its evolution under constraints for miniaturization.
Mitochondrial Dna
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Author : William C. Copeland
language : en
Publisher: Springer Science & Business Media
Release Date : 2008-02-04
Mitochondrial Dna written by William C. Copeland and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008-02-04 with Science categories.
Mutations within mitochondrial DNA (mtDNA) and the nuclear genes involved in the maintenance of mitochondrial DNA have been linked to a wide range of human diseases, including several of the most common diseases of aging. In Mitochondrial DNA: Methods and Protocols internationally recognized authorities describe in great detail the methods they have perfected to analyze mtDNA and the proteins involved in its maintenance. The analytical techniques cover the purification of mtDNA from a variety of sources and the analysis of DNA for both deletions, point mutations, and damage, for replication intermediates, and for following the fate of mtDNA outside of the mitochondria. Additional analytical methods are presented for analyzing the proteins and enzymes that maintain mtDNA. Each readily reproducible protocol includes step-by-step instructions, tips on avoiding pitfalls and extending the method to other situation, and introductory material explaining the theory behind the process. Comprehensive and timely, Mitochondrial DNA: Methods and Protocols offers both basic and clinical researchers proven cutting-edge methods for analyzing the role mtDNA plays in the aging process, apoptosis, and possibly some cancers, and for investigating the cause of mitochondrial dysfunction and disease.
Cellular And Molecular Basis Of Mitochondrial Inheritance
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Author : Peter Sutovsky
language : en
Publisher: Springer
Release Date : 2019-05-09
Cellular And Molecular Basis Of Mitochondrial Inheritance written by Peter Sutovsky and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-05-09 with Science categories.
This new volume of our successful book series Advances in Anatomy, Embryology and Cell Biology is focused on mitochondrial inheritance in humans and both vertebrate and invertrebate animals including Drosophila, C. elegans, bivalve molusc Mytilus and livestock mammals. Special consideration is given to cellular mechanisms promoting uniparental inheritance of mitochondria and mitochondrial genes, evolutionary perspectives, and biomedical and epidemiological considerations. Contributed by five distinguished mitochondrial research teams from around the world, this volume will target a wide audience of physiologists, anatomists, cell, and developmental and evolutionary biologists, as well as physicians, veterinarians, livestock specialists and biomedical researchers.
Mitochondrial Genetics And Cancer
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Author : Gabriel D. Dakubo
language : en
Publisher: Springer Science & Business Media
Release Date : 2010-03-23
Mitochondrial Genetics And Cancer written by Gabriel D. Dakubo and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010-03-23 with Medical categories.
With very few exceptions, eukaryotic cells possess two interdependent genomes, chromosomal and extra-chromosomal. Over the past several decades, cancer - search has focused primarily on deciphering the intricate alterations in the chro- somal genome, with until recently, very little attention to its cytoplasmic counterpart. In spite of the enormous complexity of the nuclear genome, which we now fully appreciate after completion of the human genome project, the efforts of cancer researchers are commendable in terms of the tremendous gains made in unraveling the numerous genetic changes in cancer. These changes include d- coveries of tumor suppressor genes, oncogenes, and caretaker genes that are often mutated in cancer. Recent studies of genomic pro?les are uncovering even more altered and mutated genes in cancer. Besides these ?ndings, several therapeutic targets for chemotherapy are currently made from studies of altered nuclear genetic pathways. Inspite of all these positive efforts, the war on cancer, declared in 1971 by Richard Nixon, is far from being worn. Indeed, the failure of chemotherapy is obvious to clinicians, oncologists, and their patients alike. Moreover, the global incidence and prevalence of cancer continue to rise. What are we missing? Which direction should we be taking? Of course, modern integrated nuclear genomics, proteomics, and metabolomics should provide important clues to carcinogenesis, but the contribution of cytoplasmic genetic alterations to carcinogenesis cannot be neglected.
Mitochondrial Genome Evolution
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Author :
language : en
Publisher: Academic Press
Release Date : 2012-11-27
Mitochondrial Genome Evolution written by and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-11-27 with Science categories.
Advances in Botanical Research publishes in-depth and up-to-date reviews on a wide range of topics in plant sciences. Features a wide range of reviews by recognized experts on all aspects of plant genetics, biochemistry, cell biology, molecular biology, physiology and ecology. This thematic volume features reviews on Mitochondrial genome evolution. Publishes in-depth and up-to-date reviews on a wide range of topics in plant sciences Features a wide range of reviews by recognized experts on all aspects of plant genetics, biochemistry, cell biology, molecular biology, physiology and ecology This thematic volume features reviews on mitochondrial genome evolution
Mitochondrial Disease Genes Compendium
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Author : Marni J. Falk
language : en
Publisher: Academic Press
Release Date : 2020-04-28
Mitochondrial Disease Genes Compendium written by Marni J. Falk and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-04-28 with Science categories.
The field of Mitochondrial Medicine has been dominated by symptom constellation-based diagnostic categorization since the first clinical syndrome was described three decades ago. Now, as rapidly expanding knowledge has revealed that mitochondrial diseases may result from several hundred distinct gene disorders with extensive clinical and mutation heterogeneity, the most useful guide for clinical care and research embraces a gene-centric approach to each individual’s disorder. Together with international colleagues, Dr. Marni Falk has developed the Mitochondrial Disease Sequence Data Resource (MSeqDR), an online, community curated, centralized data resource of mitochondrial disease data from a genomic perspective. MSeqDR provides tens of thousands of users with interactive access to mitochondrial disease feature descriptions in a defined human phenotype ontology, mitochondrial proteome-based gene and variant curation, and a suite of easily accessible tools to facilitate analysis of complex genomic datasets in nuclear and mitochondrial genomes as well as accurate interpretation of mitochondrial disease genes, variants, and diseases. Here, in the Mitochondrial Disease Genes Compendium, Dr. Marni Falk and a team of international experts have built off their work on MSeqDR to provide an all-in-one, readily accessible, and easy-to-use at point of care reference on mitochondrial disease from a gene-based perspective. In this book, clinicians and researchers will find a complete overview of mitochondrial disease genes relevant across all specialties, cataloging and building context around clinical features and the genetic basis of each condition. Within, each "gene page" offers an in-depth, referenced view of the relevant clinical disease spectrum, including gene and protein descriptions, year discovered, inheritance pattern(s), age ranges affected, major clinical features and severity range, clinical pearls, known therapies, available support groups, animal models, and gene-specific basic, translational, or clinical research activities now underway. Links provided on each gene page direct readers to MSeqDR for new findings, up-to-date genomic variant data, and user friendly informatics tools accessible to general clinicians and sophisticated geneticists or bioinformaticians alike, ensuring access to updated information on each condition. Covering 256 mitochondrial disease genes that have been expert-curated to assure they cause human diseases and have known mitochondrial localization or impact mitochondrial function, the Mitochondrial Disease Genes Compendium is directed at clinicians and researchers, facilitating bedside access to high-level, curated knowledge on mitochondrial disease genetics that rapidly enables patient diagnosis, counseling, management, treatment, and research. Provides a readily intelligible, all-in-one reference of known mitochondrial disease genes and their associated conditions Features live links to Mitochondrial Disease Sequence Data Resource (MSeqDR) pages with regularly updated genetic variant data and bioinformatics tools Covers the inheritance patterns, age spectrum affected, major clinical features, therapeutics, support groups, and research currently under way for over 250 mitochondrial diseases