Search results for: mitochondrial-diseases

Mitochondrial Diseases

Author : Patrick Lestienne
File Size : 86.85 MB
Format : PDF, Mobi
Download : 475
Read : 637
Download »
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 Disorders

Author : Claude Desnuelle
File Size : 43.9 MB
Format : PDF, Mobi
Download : 618
Read : 1279
Download »
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

Author : Placido Navas
File Size : 25.53 MB
Format : PDF, ePub
Download : 310
Read : 317
Download »
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

Author : Wiley
File Size : 82.82 MB
Format : PDF
Download : 328
Read : 485
Download »
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. Table of Contents: Introduction Mitochondrial DNA Copy Number Alterations in Human Cancers eLS Man Yu Mitochondrial Disorders: Nuclear Gene Mutations eLS Daniele Ghezzi and Massimo Zeviani Mitochondria as a Key Determinant of Aging eLS Ludivine Walter and Siu Sylvia Lee Advanced Reviews Mitochondrial tRNA Mutations and Disease WIREs RNA John W. Yarham, Joanna L. Elson, Emma L. Blakely, Robert McFarland, Robert W. Taylor Human Mitochondrial Diseases Caused by Lack of Taurine Modification in Mitochondrial tRNAs WIREs RNA Suzuki Tsutomu, Nagao Asuteka, Suzuki Takeo Protocols Next Generation Sequencing to Characterize Mitochondrial Genomic DNA Heteroplasmy Current Protocols in Human Genetics Taosheng Huang Histochemical Methods for the Diagnosis of Mitochondrial Diseases Current Protocols in Human Genetics Boel De Paepe, Jan L. De Bleecker, Rudy Van Coster

Diagnosis and Management of Mitochondrial Disorders

Author : Michelangelo Mancuso
File Size : 25.20 MB
Format : PDF, Mobi
Download : 705
Read : 660
Download »
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 Medicine

Author : Pankaj Prasun
File Size : 76.57 MB
Format : PDF, Kindle
Download : 405
Read : 267
Download »
Mitochondrial Medicine: A Primer for Health Care Providers and Translational Researchers is an applied, holistic resource that addresses the evolving and multidisciplinary area of mitochondrial disease. The book discusses the fundamentals of mitochondrial medicine in humans, as well as the pathophysiology, diagnosis and treatment of mitochondrial diseases. Three all-inclusive sections examine the role of mitochondria in common medical conditions, such as diabetes, heart failure and the full range of inherited mitochondrial diseases. Sections cover the genetic and biochemical basis of both mitochondrial DNA deletion syndromes and point mutation syndromes, their clinical presentation, treatment plans, genetic counseling, prenatal testing, and ongoing research. While providing a solid foundation in its topic area, each chapter in the book is written in an accessible format with illustrative case studies, thus making it a quick bedside or clinical laboratory reference. Includes a basic introduction to mitochondria and their misfunctions in human disease Presents current practice and research in mitochondrial medicine, with an emphasis on clinical presentation, diagnosis, treatment, genetic counseling and prenatal testing Features short, accessible chapters with illustrative case studies for quick reference Provides thorough coverage of inherited mitochondrial disorders, as well as the role of mitochondria in common medical conditions

Mitochondrial Diseases New Insights for the Healthcare Professional 2011 Edition

Author :
File Size : 59.25 MB
Format : PDF, Docs
Download : 609
Read : 567
Download »
Mitochondrial Diseases: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Mitochondrial Diseases in a compact format. The editors have built Mitochondrial Diseases: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Mitochondrial Diseases in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Mitochondrial Diseases: New Insights for the Healthcare Professional: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at

Mitochondrial Function Part B

Author :
File Size : 51.33 MB
Format : PDF, ePub, Mobi
Download : 321
Read : 733
Download »
In this second of two new volumes covering mitochondria, methods developed to assess the number and function of nuclear-encoded proteins in the mitochondrion are presented. Chapters focus on the regulation of mitochondrial function and mitochondrial diseases, with a section emphasizing the mitochondrial defects associated with type 2 diabetes. The critically acclaimed laboratory standard for 40 years, Methods in Enzymology is one of the most highly respected publications in the field of biochemistry. With more than 450 volumes published, each volume presents material that is relevant in today's labs -- truly an essential publication for researchers in all fields of life sciences. New methods focusing on the examination of normal and abnormal mitochondrial function are presented in an easy-to-follow format by the researchers who developed them Along with a companion volume covering topics including mitochondrial electron transport chain complexes and reactive oxygen species, provides a comprehensive overview of modern techniques in the study of mitochondrial malfunction Provides a "one-stop shop" for tried and tested essential techniques, eliminating the need to wade through untested or unreliable methods

Detection of Mitochondrial Diseases

Author : F.N. Gellerich
File Size : 78.89 MB
Format : PDF, ePub, Docs
Download : 722
Read : 167
Download »
In October 1995, the 1st Colloquium on Mitochondria and Myopathies in Halle/Saale was organized in Halle/Saale by the editors of this focused issue. The meeting took up what might be called an East German tradition: from 1976 to 1990 Andreas Schmidt organized seven clinically orientated Colloquia on Myology in Jena, and from 1974 to 1990 a series of twelve Colloquia on Mitochondria focused on basic research aspects was arranged by Wolfgang Kunz in Magdeburg. At those meetings, East Germany was a mediator between East European, West European and American scientists. In continuation of this tradition, scientists from more than 17 countries working on mitochondria as neurologists, biochemists, geneticists, or as physiologists came to Halle. The title of the colloquium indicated the combination of both basic and clinical mitochondrial research. The most important contributions of this meeting are now published in this focused issue. We thank all authors for their patience and cooperation that have made it possible to produce this unique collection of papers representing current knowledge on detection of mitochondrial causes of diseases. We especially thank Prof. N.S. Dhalla for making it possible to publish these contributions together in this focused issue and also as a hard-cover book.

Mitochondrial Disorders in Neurology

Author : Anthony H.V. Schapira
File Size : 29.38 MB
Format : PDF
Download : 396
Read : 1009
Download »
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.