Mitochondrial Dna And Diseases
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Mitochondrial Dna And Diseases
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Author : Hongzhi Sun
language : en
Publisher: Springer
Release Date : 2017-11-25
Mitochondrial Dna And Diseases written by Hongzhi Sun and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-11-25 with Science categories.
The book describes molecular principles and mechanisms by which mitochondrial DNA (mtDNA) can drive the occurrence of diseases and the latest understanding of mtDNA biology. The book explores roles of mtDNA mutation and genetic changes in cancer, with a special focus on lung cancer, and the significance of approach, application, and bioethics of mtDNA sequencing. Authors made a great effort to overview roles of mtDNA signaling pathways, base excision repair, methylation, USP30-mediated regulation, mitochondrial ribosome, autophagy pathways, or ROS-dependent signaling in the pathogenesis, diagnosis, prevention and treatment of diseases. It also demonstrates the importance of basic mitochondrial genetics and the relationship between mutations and disease phenotypes and ageing. This book covers not only the basic information of mtDNA, the relationship of mtDNA and disease, but also mtDNA in stem cell and mitochondria and metabolism etc. The book is written for biological and clinical students and researchers in the field of mtDNA–associated diseases.
Mitochondrial Dna Mutations In Aging Disease And Cancer
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Author : Keshav K. Singh
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-03-09
Mitochondrial Dna Mutations In Aging Disease And Cancer written by Keshav K. Singh 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 2013-03-09 with Science categories.
Many human genetic diseases associated with blood, brain, colon, ear, eye, heart, kidney, liver, muscle, and pancreas are caused by mutations in mitochondrial DNA. Mutations in DNA can result in defects of the electron transport complexes, intermediates of the tricarboxylic acid cycle and substrate transport. The clinical manifestation of these diseases often involves muscle and the nervous system. Mitochondrial DNA mutations have now been associated with aging as well as age-related degenerative diseases such as Parkinson's, Alzheimer's, and Huntington's diseases. Changes in structure, function, and a number of mitochondria play an important role in carcinogenesis. Furthermore, the role of mitochondria in the execution of programmed cell death or apoptosis has been recognized recently.
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
Mitochondria In Health And Disease
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Author : Carolyn D. Berdanier
language : en
Publisher: CRC Press
Release Date : 2005-06-09
Mitochondria In Health And Disease written by Carolyn D. Berdanier and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2005-06-09 with Medical categories.
It was once assumed that mitochondrial diseases were rare and that few people were affected. As knowledge has grown about these organelles and their function, it became clear that mitochondrial malfunction could be linked to several chronic diseases. Diabetes has been associated with DNA mutation and can cause mutation itself. This text discusses f
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 : 2012-09-27
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 2012-09-27 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 Disorders Caused By Nuclear Genes
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Author : Lee-Jun C. Wong
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-09-18
Mitochondrial Disorders Caused By Nuclear Genes written by Lee-Jun C. Wong 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 2012-09-18 with Medical categories.
Mitochondrial cytopathies are mutations in the inherited maternal mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clinically heterogeneous diseases, due to the fact that protein components of the respiratory chain are encoded by both mitochondrial and nuclear genomes and are essential in all cells. In addition, the biogenesis, structure and function of mitochondria, including DNA replication, transcription, and translation, all require nuclear encoded genes. Since mitochondria are present in every cell, every tissue, mitochondrial disorder usually affects multiple organs.
Mitochondrial Replacement Techniques
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Author : National Academies of Sciences, Engineering, and Medicine
language : en
Publisher: National Academies Press
Release Date : 2016-04-17
Mitochondrial Replacement Techniques written by National Academies of Sciences, Engineering, and Medicine and has been published by National Academies Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-04-17 with Medical categories.
Mitochondrial replacement techniques (MRTs) are designed to prevent the transmission of mitochondrial DNA (mtDNA) diseases from mother to child. While MRTs, if effective, could satisfy a desire of women seeking to have a genetically related child without the risk of passing on mtDNA disease, the technique raises significant ethical and social issues. It would create offspring who have genetic material from two women, something never sanctioned in humans, and would create mitochondrial changes that could be heritable (in female offspring), and therefore passed on in perpetuity. The manipulation would be performed on eggs or embryos, would affect every cell of the resulting individual, and once carried out this genetic manipulation is not reversible. Mitochondrial Replacement Techniques considers the implications of manipulating mitochondrial content both in children born to women as a result of participating in these studies and in descendants of any female offspring. This study examines the ethical and social issues related to MRTs, outlines principles that would provide a framework and foundation for oversight of MRTs, and develops recommendations to inform the Food and Drug Administration's consideration of investigational new drug applications.
Mitochondrial Diseases
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Author : Placido Navas
language : en
Publisher: Springer Nature
Release Date : 2021-07-30
Mitochondrial Diseases written by Placido Navas and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-07-30 with Medical categories.
Mitochondrial diseases comprise a clinically and genetically heterogeneous group of rare disorders that may affect virtually any system of the body at any age. Due to their complexity, understanding and diagnosing these diseases requires a multidisciplinary approach. This book provides an update on the major features of human mitochondrial diseases: genetic bases, pathophysiology, diagnosis, and treatment, and of the new technologies involved in the diagnosis and on the characterization of patients. The 11 chapters examine the unique complex interactions between the mitochondrial and the nuclear genomes involved in the biogenesis and the regulation of the mitochondrial respiratory chain, and their relevance to human disease. We discuss the traditional biochemical and genetic approaches, as well as the new omic technologies, and the cellular and animal models used in mitochondrial research. The last chapter is dedicated to the current treatment options. Authors are worldwide experts in these fields and integrate expertise in both basic science and clinical research. This book is particularly important for both scientists and clinicians interested in the diagnosis and treatment of these diseases.
Mitochondrial Diseases
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Author : Patrick Lestienne
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06
Mitochondrial Diseases written by Patrick Lestienne 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 2012-12-06 with Science categories.
For those like me who witnessed the beginning of the adventure of human mitochon drial pathology, one can only be astounded by the extent and unexpectedness of what the field has come to offer. Extent because nobody could have imagined the sheer size of the domain. Unexpectedness because hitherto it was impossible to imagine the clinical polymorphism that this pathology would represent. The starting point was clear. Initially, there was the exceptional, and for a long time unique, observation of euthyroidian hypermetabolism that Luft and colleagues analyzed remarkably in biochemical and clinical terms. Thereafter, there was the support provided by the electron microscopy studies of Afzelius, and the very first visualization of mitochondrial abnormalities. That was way back in 1958. A few years later, progress in the cytology and cytochemistry of skeletal muscle tissue was to provide the means of detecting such abnormalities by examining sections with light microscopy. The colorful term "ragged red fibers", coined by W. K. Engel, became uni versally accepted, and this typical aspect with Gomori trichrome stain was to throw light on the frequency with which these mitochondrial abnormalities could occur under pathological conditions which, until then, had remained a total mystery regard ing their mechanism: syndromes such as the ocular myopathies with their descending evolution and the oculocraniosomatic syndromes. We were at the beginning of the 1970s.
Genetics Of Mitochondrial Diseases
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Author : Ian James Holt
language : en
Publisher:
Release Date : 2003
Genetics Of Mitochondrial Diseases written by Ian James Holt and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003 with Mitochondrial DNA categories.