Detection Of Mitochondrial Diseases PDF Download
Are you looking for read ebook online? Search for your book and save it on your Kindle device, PC, phones or tablets. Download Detection Of Mitochondrial Diseases PDF full book. Access full book title Detection Of Mitochondrial Diseases.
| Author | : F.N. Gellerich |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 317 |
| Release | : 2012-12-06 |
| Genre | : Science |
| ISBN | : 1461561116 |
Download Detection of Mitochondrial Diseases Book in PDF, ePub and Kindle
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.
| Author | : Lawrence H. Lash |
| Publisher | : Elsevier |
| Total Pages | : 527 |
| Release | : 2013-10-22 |
| Genre | : Science |
| ISBN | : 1483218619 |
Download Mitochondrial Dysfunction Book in PDF, ePub and Kindle
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.
| Author | : Michelangelo Mancuso |
| Publisher | : Springer |
| Total Pages | : 382 |
| Release | : 2019-05-03 |
| Genre | : Medical |
| ISBN | : 3030055175 |
Download Diagnosis and Management of Mitochondrial Disorders Book in PDF, ePub and Kindle
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.
| Author | : Patrick F. Chinnery |
| Publisher | : Cambridge University Press |
| Total Pages | : 229 |
| Release | : 2018-05-17 |
| Genre | : Medical |
| ISBN | : 0521132983 |
Download Clinical Mitochondrial Medicine Book in PDF, ePub and Kindle
This interactive clinical textbook takes a system- and case-based approach in understanding mitochondrial disorders in clinical practice.
| Author | : Salvatore DiMauro |
| Publisher | : |
| Total Pages | : |
| Release | : 2006 |
| Genre | : MEDICAL |
| ISBN | : 9780367800154 |
Download Mitochondrial Medicine Book in PDF, ePub and Kindle
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.
| Author | : Iain P. Hargreaves |
| Publisher | : MDPI |
| Total Pages | : 239 |
| Release | : 2018-10-16 |
| Genre | : Electronic books |
| ISBN | : 3038972401 |
Download Current Strategies for the Biochemical Diagnosis and Monitoring of Mitochondrial Disease Book in PDF, ePub and Kindle
This book is a printed edition of the Special Issue "Current Strategies for the Biochemical Diagnosis and Monitoring of Mitochondrial Disease" that was published in JCM
| Author | : Placido Navas |
| Publisher | : Springer Nature |
| Total Pages | : 308 |
| Release | : 2021-07-30 |
| Genre | : Medical |
| ISBN | : 3030701476 |
Download Mitochondrial Diseases Book in PDF, ePub and Kindle
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.
| Author | : National Academies of Sciences, Engineering, and Medicine |
| Publisher | : National Academies Press |
| Total Pages | : 201 |
| Release | : 2016-04-17 |
| Genre | : Medical |
| ISBN | : 0309388708 |
Download Mitochondrial Replacement Techniques Book in PDF, ePub and Kindle
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.
| Author | : Claude Desnuelle |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 314 |
| Release | : 2013-12-01 |
| Genre | : Medical |
| ISBN | : 2817809297 |
Download Mitochondrial Disorders Book in PDF, ePub and Kindle
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.
| Author | : Anthony H.V. Schapira |
| Publisher | : Butterworth-Heinemann |
| Total Pages | : 265 |
| Release | : 2013-10-22 |
| Genre | : Medical |
| ISBN | : 1483193691 |
Download Mitochondrial Disorders in Neurology Book in PDF, ePub and Kindle
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.
