Mitochondrial Disorders
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Mitochondrial Disorders
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Author : Claude Desnuelle
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-12-01
Mitochondrial Disorders written by Claude Desnuelle 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 2013-12-01 with Medical categories.
The concept of mitochondrial diseases originated in 1962 with the description by Luft and coworkers of a patient with nonthyroidal hypermetabolism due to loose coupling of oxidation and phosphorylation in muscle mitochondria. Over the following quarter of a century, thanks to W. King Engel's "ragged-red fibres" as convenient markers for mitochondrial pathology, numerous papers described clinical, morphological, and biochemical features of "mitochondrial myopathies." In 1988 the discovery of mutations in mitochondrial DNA led to an explosive expansion of research into mitochondrial disorders. Throughout the 1990s the rapid identification of multiple mitochondrial gene defects associated with clinically diverse disorders has left practitioners puzzled about diagnosing such heterogeneous and complex syndromes. Through updated data, this book discusses now what Luft aptly called "mitochondrial medicine." In so doing, it considers the pivotal role of mitochondria in drug sensitivity, their key roles in ageing, apoptosis, and neurodegeneration along with primary mitochondrial diseases due to mutations in the nuclear genome, in the mitochondrial genome, or in the cross-talk between the two genomes.
Mitochondrial Diseases
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Author : Wiley
language : en
Publisher: John Wiley & Sons
Release Date : 2013-07-12
Mitochondrial Diseases written by Wiley and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-07-12 with Science categories.
This collection of reviews and protocols provides the reader with an introduction to the current state of knowledge on how various diseases are related to mitochondrial dysfunction. Mitochondria contain their own genome, a small, circular double-stranded DNA (mtDNA), and alterations in mtDNA may play an important role in the multistep carcinogenesis of at least some types of human cancer. In addition to mutations of mtDNA, many mitochondrial syndromes are due to abnormalities in nuclear genes related to oxidative phosphorylation (OXPHOS). Mitochondrial tRNA (MTT) gene mutations are an important cause of human morbidity and are associated with a wide range of pathology, from isolated organ?]specific diseases such as myopathy or hearing loss, to multisystem disorders with encephalopathy, gastrointestinal dysmotility, and life?]threatening cardiomyopathy. The relationship of the mitochondrion organelle to aging and longevity is also discussed. Laboratory protocols describe methodology to characterize mtDNA heteroplasmy by parallel sequencing. Each eukaryotic cell contains hundreds of mitochondria with hundreds of mitochondria genomes. Mutant and wild-type mtDNA may co-exist as heteroplasmy, and cause human disease. The purpose of this protocol is to simultaneously determine mtDNA sequence and quantify the heteroplasmic level. Another protocol describes procedures for obtaining tissue sections and cell material suitable for histological evaluation of OXPHOS activity and integrity and immunodetection of the complexes in tissue from patients suspected of mitochondrial disease. Emphasis lies on the diagnostic potential of these techniques to differentiate mtDNA from nuclear mutations. This e-book — a curated collection from eLS, WIREs, and Current Protocols — offers a fantastic introduction to the field of mitochondrial diseases for students or interdisciplinary collaborators.
Mitochondrial Disorders In Neurology
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Author : Anthony H.V. Schapira
language : en
Publisher: Butterworth-Heinemann
Release Date : 2013-10-22
Mitochondrial Disorders In Neurology written by Anthony H.V. Schapira and has been published by Butterworth-Heinemann this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-10-22 with Medical categories.
Mitochondrial Disorders in Neurology provides an overview of mitochondrial diseases. This book discusses the effects of mitochondrial dysfunction based on the relevant biochemistry and molecular genetics. The abnormal muscle and mitochondrial morphology in a variety of clinical presentations from isolated ophthalmoplegia to severe encephalopathy are also elaborated. This text likewise deliberates Leber's hereditary optic neuropathy, neurodegenerative disorders, and respiratory chain defects. Other topics covered include mitochondrial DNA and the genetics of mitochondrial disease; cytochrome oxidase deficiency; use of tissue culture in the diagnosis of mitochondrial disease; and advances in mitochondrial genetics. This publication is a good source for clinicians and students concerned with the defective mitochondrial function.
Diagnosis And Management Of Mitochondrial Disorders
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Author : Michelangelo Mancuso
language : en
Publisher: Springer
Release Date : 2019-05-03
Diagnosis And Management Of Mitochondrial Disorders written by Michelangelo Mancuso and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-05-03 with Medical categories.
This book will help readers navigate the complexity of mitochondrial disorders, by addressing the role of mitochondrial dysfunction and the complex pathophysiological mechanisms associated with a growing number of illnesses, not only of neurological interest. Further, it provides updated concepts on genotype-phenotype correlations, clinical syndromes, diagnostic algorithms and therapies. Written by the world’s foremost mitochondrial researchers, the book comprehensively presents the state-of-the-art in mitochondrial medicine, making it of interest to a wide variety of specialists, including neurologists, geneticists, internists and biologists.
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 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.
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 Case Studies
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Author : Russell Saneto
language : en
Publisher: Academic Press
Release Date : 2015-11-24
Mitochondrial Case Studies written by Russell Saneto and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-11-24 with Science categories.
Mitochondrial Case Studies: Underlying Mechanisms and Diagnosis offers the science behind mitochondrial disease with a case studies approach. Since mitochondrial diseases are diverse and influenced by genetic, environmental, and social-economic factors, this publication will help students, physicians, scientists, health care students, and families recognize and accurately diagnose mitochondrial disease and learn about potential treatments. Reviews case studies as a helpful teaching tool to increase awareness and improve diagnosis Provides information on underlying mechanisms of mitochondrial disease Includes basic mitochondrial dysfunction research through patient case studies to best illustrate the entire disease process
Mitochondrial Disorders Biochemical And Molecular Basis Of Disease
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Author : Grant M. Hatch
language : en
Publisher: Frontiers Media SA
Release Date : 2022-01-11
Mitochondrial Disorders Biochemical And Molecular Basis Of Disease written by Grant M. Hatch and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-01-11 with Science categories.
Clinical Mitochondrial Medicine
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Author : Patrick F. Chinnery
language : en
Publisher: Cambridge University Press
Release Date : 2018-05-17
Clinical Mitochondrial Medicine written by Patrick F. Chinnery and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-05-17 with Medical categories.
This interactive clinical textbook takes a system- and case-based approach in understanding mitochondrial disorders in clinical practice.