Mitochondrial Disorders Biochemical And Molecular Basis Of Disease
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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.
Molecular Basis Of Mitochondrial Pathology
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Author : C. P. Lee
language : en
Publisher: Academic Press
Release Date : 2014-11-27
Molecular Basis Of Mitochondrial Pathology written by C. P. Lee and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-11-27 with Science categories.
The field of mitochondrial diseases is currently one of the rapidly growing fields of research in cell and molecular biology. This volume encompasses the latest development in this field of research. The chapters cover topics in a wide range of disciplines including biophysics, biochemistry, cell and molecular biology, molecular genetics, and clinical medicine. Summarizes growing evidence of the role of mitochondria in a large number of pathological conditions Brings together different approaches toward understanding mitochondria diseases Molecular and cellular biology Clinical physiology and medicine Details the crucial role this organelle plays in genetic regulation of various biological functions
Molecular Basis Of Membrane Associated Diseases
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Author : Angelo Azzi
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06
Molecular Basis Of Membrane Associated Diseases written by Angelo Azzi 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.
Biological membranes are often effected by diseases. Molecular events leading to or arising from pathological changes in the course of different diseases are as yet not clearly understood. This competent study by leading experts covers changes of the cellular environment, membranes and the metabolic functions during tissue growth and differentiation as well as aspects of abnormal organelle function in lysosomal storage diseases, peroxisomal and mitochondrial disorders, enzyme defects and regulatory defects of receptors due to oncogenes.
Mitochondrial Disorders
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Author : Lee-Jun C. Wong
language : en
Publisher: Humana Press
Release Date : 2016-08-23
Mitochondrial Disorders written by Lee-Jun C. Wong and has been published by Humana Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-08-23 with Science categories.
Due to the complexity of the mitochondrial system and the myriad genes involved in their function, the clinical manifestations of mitochondrial diseases are remarkably variable and heterogeneous. The laboratory and clinical methodologies used to evaluate dysfunction may vary widely, and thusly a systematic presentation of the numerous protocols that are applied to the assessment of these clinically and genetically heterogeneous disorders has proven to be essential. Mitochondrial Disorders: Biochemical and Molecular Analysis strives to fill this need with a collection of key protocols provided by leading experts in the field. Beginning with overviews of complexity of mitochondrial and nuclear genome disorders, the book continues with a section devoted to current biochemical protocols and a part focused on the DNA-based approaches used to identify molecular defects. Written in the highly successful Methods in Molecular BiologyTM series format, chapters contain introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Detailed and authoritative, Mitochondrial Disorders: Biochemical and Molecular Analysis serves as a vital guide to researchers seeking to understand this incredibly complicated type of breakdown in cellular biology.
Cellular And Molecular Basis Of Mitochondrial Inheritance
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Author : Peter Sutovsky
language : en
Publisher: Springer
Release Date : 2019-05-09
Cellular And Molecular Basis Of Mitochondrial Inheritance written by Peter Sutovsky and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-05-09 with Science categories.
This new volume of our successful book series Advances in Anatomy, Embryology and Cell Biology is focused on mitochondrial inheritance in humans and both vertebrate and invertrebate animals including Drosophila, C. elegans, bivalve molusc Mytilus and livestock mammals. Special consideration is given to cellular mechanisms promoting uniparental inheritance of mitochondria and mitochondrial genes, evolutionary perspectives, and biomedical and epidemiological considerations. Contributed by five distinguished mitochondrial research teams from around the world, this volume will target a wide audience of physiologists, anatomists, cell, and developmental and evolutionary biologists, as well as physicians, veterinarians, livestock specialists and biomedical researchers.
Molecular Basis Of Neurological Disorders And Their Treatment
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Author : J.W. Gorrod
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06
Molecular Basis Of Neurological Disorders And Their Treatment written by J.W. Gorrod 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 Medical categories.
cytochemical techniques (ICC) which provide a useful adjunct to investigations by immunoblotting. A particular advantage of a cytochemical approach to the investiga tion of mitochondrial disorders is that it allows the mosaic distribution of certain of these defects to be detected, whereas the tissue homogeniza tion involved in conventional enzyme assays or immunoblotting precludes this. A further advantage of MEA or ICC is that only small amounts of tissue are needed, which is important since many of the affected patients are infants or small children. The main aim of this communica tion is to outline ways in which these techniques can be used in the diagnosis and further investigation of mitochondrial disorders. Reference will be made not only to those situations in which MEA and ICC offer advantages over standard enzyme asays and immunoblotting but also to contexts in which the reverse applies. 4. 2 MATERIALS AND METHODS Muscle biopsies for cytochemical investigation were snap-frozen using isopentane cooled to - 150°C in liquid nitrogen. Samples were stored in heat-sealed polythene packets in the vapour phase of liquid nitrogen containers. 4. 2. 1 Microphotometric enzyme assays Frozen sections 8 Jlm thick were cut using a Reichert-J ung Frigocut cryostat microtome equipped with motor-driven cutting action to maintain maximal reproducibility of section thickness. Sections were picked up on microscope slides and air-dried for 15 min at room temperature.
Oxidative Phosphorylation In Health And Disease
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Author : Jan A.M. Smeitink
language : en
Publisher: Springer Science & Business Media
Release Date : 2007-03-06
Oxidative Phosphorylation In Health And Disease written by Jan A.M. Smeitink 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 2007-03-06 with Medical categories.
Mitochondrial diseases are often hard to diagnose. From the time they were first researched without animal models, patients of mitochondrial diseases were of equal interest to both clinical and basic scientists. With the new research done, this book includes updates on the normal structure, function, and molecular biology of the mitochondrial respiratory chain, information on traditional diagnostical methodologies, and an overview of the diagnostic promise of new technologies. The hypermetabolism of Luft disease, although only seen twice, is also studied. There are critical reviews of symptoms and signs associated with syndromes, as well as updates on the genetic defects of either the mitochondrial or the nuclear genome responsible for many disorders.
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.
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 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.