Mitochondrial Disorders Caused By Nuclear Genes

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Mitochondrial Disorders Caused by Nuclear Genes

Lee-Jun C. Wong
Mitochondrial Disorders Caused by Nuclear Genes Book PDF

Author : Lee-Jun C. Wong
Publisher : Springer Science & Business Media
Page : 372 pages
File Size : 41,7 Mb
Release : 2012-09-18
Category : Medical
ISBN : 9781461437222

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Mitochondrial Disorders Caused by Nuclear Genes by Lee-Jun C. Wong Pdf

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 Dysfunction

Lawrence H. Lash,Dean P. Jones
Mitochondrial Dysfunction Book PDF

Author : Lawrence H. Lash,Dean P. Jones
Publisher : Elsevier
Page : 528 pages
File Size : 55,5 Mb
Release : 2013-10-22
Category : Science
ISBN : 9781483218618

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Mitochondrial Dysfunction by Lawrence H. Lash,Dean P. Jones Pdf

Methods in Toxicology, Volume 2: Mitochondrial Dysfunction provides a source of methods, techniques, and experimental approaches for studying the role of abnormal mitochondrial function in cell injury. The book discusses the methods for the preparation and basic functional assessment of mitochondria from liver, kidney, muscle, and brain; the methods for assessing mitochondrial dysfunction in vivo and in intact organs; and the structural aspects of mitochondrial dysfunction are addressed. The text also describes chemical detoxification and metabolism as well as specific metabolic reactions that are especially important targets or indicators of damage. The methods for measurement of alterations in fatty acid and phospholipid metabolism and for the analysis and manipulation of oxidative injury and antioxidant systems are also considered. The book further tackles additional methods on mitochondrial energetics and transport processes; approaches for assessing impaired function of mitochondria; and genetic and developmental aspects of mitochondrial disease and toxicology. The text also looks into mitochondrial DNA synthesis, covalent binding to mitochondrial DNA, DNA repair, and mitochondrial dysfunction in the context of developing individuals and cellular differentiation. Microbiologists, toxicologists, biochemists, and molecular pharmacologists will find the book invaluable.

Mitochondrial Diseases

Wiley
Mitochondrial Diseases Book PDF

Author : Wiley
Publisher : John Wiley & Sons
Page : 199 pages
File Size : 48,6 Mb
Release : 2013-07-12
Category : Science
ISBN : 9781118734414

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Mitochondrial Diseases by Wiley Pdf

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

Claude Desnuelle
Mitochondrial Disorders Book PDF

Author : Claude Desnuelle
Publisher : Springer Science & Business Media
Page : 314 pages
File Size : 55,5 Mb
Release : 2013-12-01
Category : Medical
ISBN : 9782817809298

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Mitochondrial Disorders by Claude Desnuelle Pdf

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 Disorders in Neurology

Anthony H.V. Schapira,S. Dimauro
Mitochondrial Disorders in Neurology Book PDF

Author : Anthony H.V. Schapira,S. Dimauro
Publisher : Butterworth-Heinemann
Page : 265 pages
File Size : 41,6 Mb
Release : 2013-10-22
Category : Medical
ISBN : 9781483193694

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Mitochondrial Disorders in Neurology by Anthony H.V. Schapira,S. Dimauro Pdf

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.

Mitochondrial Medicine

Salvatore DiMauro,Michio Hirano,Eric A. Schon
Mitochondrial Medicine Book PDF

Author : Salvatore DiMauro,Michio Hirano,Eric A. Schon
Publisher : CRC Press
Page : 368 pages
File Size : 55,5 Mb
Release : 2006-04-19
Category : Medical
ISBN : 1842142887

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Mitochondrial Medicine by Salvatore DiMauro,Michio Hirano,Eric A. Schon Pdf

Mitochondrial dysfunction is increasingly being recognized as the basis of a wide variety of human diseases. Providing an authoritative update on our current knowledge of mitochondrial medicine, this text draws together world authorities from various fields to present general therapeutic strategies, as well as the treatments presently available in different specialties - thus making it essential reading for clinicians involved with the management of patients with mitochondrial diseases. A unique work, this text covers a range of specialties, including cardiology, ophthalmology, otology, nephrology, gastroenterology, hematology-oncology, and reproductive medicine, and does not focus exclusively on the more commonly known neurologic conditions. An accessible, user-friendly text, it also presents translational concepts of mitochondrial biogenesis and genetics in vignettes related to specific questions raised by the disease under discussion, rather than concentrating on basic science, which can often intimidate clinicians. This pioneering work is primarily directed to a clinical audience who are interested in the diverse and diagnostically challenging clinical presentations of mitochondrial diseases and their pathophysiology.

Mitochondrial Replacement Techniques

National Academies of Sciences, Engineering, and Medicine,Institute of Medicine,Board on Health Sciences Policy,Committee on the Ethical and Social Policy Considerations of Novel Techniques for Prevention of Maternal Transmission of Mitochondrial DNA Diseases
Mitochondrial Replacement Techniques Book PDF

Author : National Academies of Sciences, Engineering, and Medicine,Institute of Medicine,Board on Health Sciences Policy,Committee on the Ethical and Social Policy Considerations of Novel Techniques for Prevention of Maternal Transmission of Mitochondrial DNA Diseases
Publisher : National Academies Press
Page : 201 pages
File Size : 52,8 Mb
Release : 2016-04-17
Category : Medical
ISBN : 9780309388702

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Mitochondrial Replacement Techniques by National Academies of Sciences, Engineering, and Medicine,Institute of Medicine,Board on Health Sciences Policy,Committee on the Ethical and Social Policy Considerations of Novel Techniques for Prevention of Maternal Transmission of Mitochondrial DNA Diseases Pdf

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.

Clinical Mitochondrial Medicine

Patrick F. Chinnery,Michael J. Keogh
Clinical Mitochondrial Medicine Book PDF

Author : Patrick F. Chinnery,Michael J. Keogh
Publisher : Cambridge University Press
Page : 229 pages
File Size : 54,9 Mb
Release : 2018-05-17
Category : Medical
ISBN : 9780521132985

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Clinical Mitochondrial Medicine by Patrick F. Chinnery,Michael J. Keogh Pdf

This interactive clinical textbook takes a system- and case-based approach in understanding mitochondrial disorders in clinical practice.

Mitochondrial DNA Mutations in Aging, Disease and Cancer

Keshav K. Singh
Mitochondrial DNA Mutations in Aging Disease and Cancer Book PDF

Author : Keshav K. Singh
Publisher : Springer Science & Business Media
Page : 417 pages
File Size : 45,9 Mb
Release : 2013-03-09
Category : Science
ISBN : 9783662125090

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Mitochondrial DNA Mutations in Aging, Disease and Cancer by Keshav K. Singh Pdf

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.

Cerebellar Disorders

Mario Ubaldo Manto
Cerebellar Disorders Book PDF

Author : Mario Ubaldo Manto
Publisher : Cambridge University Press
Page : 128 pages
File Size : 48,9 Mb
Release : 2010-03-25
Category : Medical
ISBN : 9781139487269

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Cerebellar Disorders by Mario Ubaldo Manto Pdf

During the last three decades, many laboratories worldwide have dedicated their research activities to understanding the roles of the cerebellum in motor control, cognitive processes and the biology of mental processes, behavioral symptoms and emotion. These advances have been associated with discoveries of new clinical disorders, in particular in the field of genetic ataxias, and the growing number of diseases presents a source of difficulty for clinicians during daily practice. This practical guide summarizes and evaluates current knowledge in the field of cerebellar disorders. Encompassing details of both common and uncommon cerebellar ataxias, including vascular, immune, neoplastic, infectious, traumatic, toxic and inherited disorders, this book will assist clinicians in the diagnosis and management of the full spectrum of cerebellar ataxias encountered in daily practice. Essential reading for clinicians, including general practitioners, neurologists, pediatricians, radiologists, psychiatrists and neuropsychologists, this will also prove a valuable tool for students, trainees and researchers.

Mitochondrial Dysfunction in Ageing and Diseases

Jaime M. Ross,Giuseppe Coppotelli,Lars Olson
Mitochondrial Dysfunction in Ageing and Diseases Book PDF

Author : Jaime M. Ross,Giuseppe Coppotelli,Lars Olson
Publisher : MDPI
Page : 543 pages
File Size : 52,6 Mb
Release : 2018-09-28
Category : Electronic book
ISBN : 9783038422518

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Mitochondrial Dysfunction in Ageing and Diseases by Jaime M. Ross,Giuseppe Coppotelli,Lars Olson Pdf

This book is a printed edition of the Special Issue "Mitochondrial Dysfunction in Ageing and Diseases" that was published in IJMS

Heritable Human Genome Editing

The Royal Society,National Academy of Sciences,National Academy of Medicine,International Commission on the Clinical Use of Human Germline Genome Editing
Heritable Human Genome Editing Book PDF

Author : The Royal Society,National Academy of Sciences,National Academy of Medicine,International Commission on the Clinical Use of Human Germline Genome Editing
Publisher : National Academies Press
Page : 239 pages
File Size : 52,9 Mb
Release : 2021-01-16
Category : Medical
ISBN : 9780309671132

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Heritable Human Genome Editing by The Royal Society,National Academy of Sciences,National Academy of Medicine,International Commission on the Clinical Use of Human Germline Genome Editing Pdf

Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.

Oxford Textbook of Clinical Nephrology

Neil N. Turner,Norbert Lameire,David J. Goldsmith,Christopher G. Winearls,Jonathan Himmelfarb,Giuseppe Remuzzi
Oxford Textbook of Clinical Nephrology Book PDF

Author : Neil N. Turner,Norbert Lameire,David J. Goldsmith,Christopher G. Winearls,Jonathan Himmelfarb,Giuseppe Remuzzi
Publisher : Oxford University Press
Page : 3045 pages
File Size : 43,6 Mb
Release : 2015-10-29
Category : Medical
ISBN : 9780191017650

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Oxford Textbook of Clinical Nephrology by Neil N. Turner,Norbert Lameire,David J. Goldsmith,Christopher G. Winearls,Jonathan Himmelfarb,Giuseppe Remuzzi Pdf

This fourth edition of the Oxford Textbook of Clinical Nephrology builds on the success and international reputation of the publication as an important resource for the practising clinician in the field. It provides practical, scholarly, and evidence-based coverage of the full spectrum of clinical nephrology, written by a global faculty of experts. The most relevant and important reference to clinical nephrology, this is an authoritative and comprehensive textbook combining the clinical aspects of renal disease essential to daily clinical practice with extensive information about the underlying basic science and current evidence available. Each section of the textbook has been critically and comprehensively edited under the auspices of a leading expert in the field. This new edition has been significantly expanded and reapportioned to reflect developments and new approaches to topics, and includes treatment algorithms to aid and enhance patient care where possible. The fourth edition offers increased focus on the medical aspects of transplantation, HIV-associated renal disease, and infection and renal disease, alongside entirely new sections on genetic topics and clinical and physiological aspects of fluid/electrolyte and tubular disorders. The emphasis throughout is on marrying advances in scientific research with clinical management. Richly illustrated throughout in full colour, this is a truly modern and attractive edition which reinforces the Oxford Textbook of Clinical Nephrology's position as an indispensable reference work of consistent quality and reliability. Enriched and refined by careful revision, this new edition continues the tradition of excellence. This print edition of The Oxford Textbook of Clinical Nephrology comes with a year's access to the online version on Oxford Medicine Online. By activating your unique access code, you can read and annotate the full text online, follow links from the references to primary research materials, and view, enlarge and download all the figures and tables. Oxford Medicine Online is mobile optimized for access when and where you need it.

Mitochondrial Diseases

Patrick Lestienne
Mitochondrial Diseases Book PDF

Author : Patrick Lestienne
Publisher : Springer Science & Business Media
Page : 397 pages
File Size : 40,8 Mb
Release : 2012-12-06
Category : Science
ISBN : 9783642598845

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Mitochondrial Diseases by Patrick Lestienne Pdf

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

Placido Navas,Leonardo Salviati
Mitochondrial Diseases Book PDF

Author : Placido Navas,Leonardo Salviati
Publisher : Springer Nature
Page : 308 pages
File Size : 46,7 Mb
Release : 2021-07-30
Category : Medical
ISBN : 9783030701475

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Mitochondrial Diseases by Placido Navas,Leonardo Salviati Pdf

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.