Download or read book Mitochondrial Dysfunction written by Lawrence H. Lash and published by Elsevier. This book was released on 2013-10-22 with total page 527 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Disorders of Voluntary Muscle written by George Karpati and published by Cambridge University Press. This book was released on 2001-07-12 with total page 800 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.
Download or read book Mitochondrial Disorders written by Claude Desnuelle and published by Springer Science & Business Media. This book was released on 2013-12-01 with total page 314 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Mitochondrial Disorders in Neurology written by Anthony H.V. Schapira and published by Butterworth-Heinemann. This book was released on 2013-10-22 with total page 265 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Mitochondrial Medicine written by Saskia Koene and published by . This book was released on 2011 with total page 135 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Mitochondrial Diseases written by and published by Elsevier. This book was released on 2023-02-20 with total page 304 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mitochondrial Diseases, Volume 194 presents the most common clinical manifestations, providing an up-to-date summaries on the clinical presentations, diagnostic processes, genetic counseling and treatment options in mitochondrial diseases. Contents include specialist biochemical analyses and targeted molecular genetic testing, as well as first-line genome-wide sequencing to accelerate speed of diagnosis while avoiding time-consuming, expensive and invasive investigations. Establishing a genetic diagnosis allows patients with mitochondrial diseases to have reproductive options, all of which are covered within.This book is intended for neurologists to help them recognize and manage patients with mitochondrial diseases. Examines the pathophysiology of mitochondrial diseases and disorders Focuses on neurological symptoms of mitochondrial diseases Presents myopathies, neuropathies, epilepsy, ataxia, paraplegias, and more Covers histology, metabolism, genetic, and neuroimaging diagnostics Summarizes both available and emerging therapies Includes clinical trials, the use of biomarkers and reproductive options
Download or read book The Way We Roll Now Comes Mitochondrial Myopathy a Disease You Never Knew You Had written by Ruth Ann Cullinane and published by Peppertree Press. This book was released on 2021-06-24 with total page 236 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mitochondrial myopathies encompass major muscular problems, but so much more. This book is about the journey of a woman to uncover the source of her hereditary disorder. It was an illness that unflaggingly plagued her family for generations. Initially intermittent and invisible, with time, it morphed into a disease with severe and life-threatening symptoms. She endures false starts and numerous dead-ends, as she sets about discovering the origin of this mysterious illness dating back to her great-grandfather, who served in the Civil War. His early disability pension application included several notes from physicians documenting his difficulties in detail. Their observations provided essential and defining clues to his disability. An accurate diagnosis is often challenging to find. The writer shares her story, hoping it may help someone else to know they are not alone as they initiate their search in this broad and perplexing area. To further complicate the matter, some diseases are not yet recognized. Every delay in diagnosis, she notes, puts off a better future. As a communication sciences specialist, the author chronicles life with her disease from personal experience and an informed professional perspective. To her, it was as though she had prepared for this illness her whole life. With my illness, my body spun an alternate universe, and with time, the new reality expanded with each new symptom or twist and turn. Other complications loomed, and their intricacies were so numerous as to take my breath away. The disease created a universe of alternate senses with no cancellation option available. Soft fabrics burned my skin, while perfectly normal-looking skin itched. Blistered skin may not hurt at all. For no discernible reason, lightning pains chose to strike quickly and deep in new and unanticipated places, leaving me to wonder if I had a new problem or just another transient incident. One day, without warning, I blacked out and then promptly regained consciousness, wondering, "What just happened here?" It was a mostly unforeseen problem that could cause serious injuries. It was also uncontrollable to no small degree. Numbness and tingling were near constant companions, necessitating having to scan for unfelt injuries periodically. Warned that if my shoes were too tight, they could cause wounds capable of bringing about my early demise, I changed them every day.
Download or read book Mitochondrial Disorders Caused by Nuclear Genes written by Lee-Jun C. Wong and published by Springer Science & Business Media. This book was released on 2012-09-18 with total page 364 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Diagnosis and Management of Mitochondrial Disorders written by Michelangelo Mancuso and published by Springer. This book was released on 2019-05-03 with total page 382 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Mitochondrial Disorders in Neurology 2 written by Anthony Henry Vernon Schapira and published by Butterworth-Heinemann. This book was released on 2002 with total page 332 pages. Available in PDF, EPUB and Kindle. Book excerpt: Gain practical explanations of the science underlying mitochondrial disorders in neurology. Written by leading experts, this new Blue Book helps you recognize and manage the diseases. Includes: Sections on the role of mitochondria in neurodegenerative disease The development of animal models for mitochondrial diseases The design of treatments for patients with mitochondrial defects
Download or read book Mitochondrial Case Studies written by Russell Saneto and published by Academic Press. This book was released on 2015-11-24 with total page 340 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book Mitochondrial Replacement Techniques written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2016-04-17 with total page 201 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Myopathology written by Balan Louis Gaspar and published by Springer. This book was released on 2018-09-24 with total page 299 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book covers all aspects of basic, essential, recent advances and controversies in myopathology. The major emphasis is on diagnostic myopathology of muscular dystrophies, inflammatory myopathies, mitochondrial myopathies, metabolic myopathies, congenital myopathies, myopathies of miscellaneous etiology, neurogenic and neuromuscular junction disorders, the goal being to broaden readers’ understanding of individual disease subgroups. The book also contains all the essential details needed to establish a neuromuscular lab, making it especially relevant for laboratory technical staff and research scholars.
Download or read book Mitochondrial Diseases written by Placido Navas and published by Springer Nature. This book was released on 2021-07-30 with total page 308 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Evaluation and Treatment of Myopathies written by Robert Griggs and published by Contemporary Neurology. This book was released on 2014 with total page 387 pages. Available in PDF, EPUB and Kindle. Book excerpt: Preceded by Evaluation and treatment of myopathies / Robert C. Griggs, Jerry R. Mendell, Robert G. Miller. c1995.
Download or read book Cancer Gene Therapy written by David T. Curiel and published by Springer Science & Business Media. This book was released on 2007-11-03 with total page 491 pages. Available in PDF, EPUB and Kindle. Book excerpt: A complete introduction and guide to the latest developments in cancer gene therapy-from bench to bedside. The authors comprehensively review the anticancer genes and gene delivery methods currently available for cancer gene therapy, including the transfer of genetic material into the cancer cells, stimulation of the immune system to recognize and eliminate cancer cells, and the targeting of the nonmalignant stromal cells that support their growth. They also thoroughly examine the advantages and limitations of the different therapies and detail strategies to overcome obstacles to their clinical implementation. Topics of special interest include vector-targeting techniques, the lessons learned to date from clinical trials of cancer gene therapy, and the regulatory guidelines for future trials. Noninvasive techniques to monitor the extent of gene transfer and disease regression during the course of treatment are also discussed.
Download or read book Hereditary myopathies written by Sics Editore and published by SICS Editore. This book was released on 2014-10-01 with total page 35 pages. Available in PDF, EPUB and Kindle. Book excerpt: The majority of patients with myopathies have an inherited disease. Symptoms alone are not usually enough to diagnose myopathy, but they warrant further neurological examinations that are performed in larger hospitals and in special outpatient clinics for neuromuscular disorders.
