Mitochondrial Neuropathies


Book Description

Mitochondrial Neuropathies, Volume 146, brings together experts in a range of diseases that damage the nervous system to present the role of mitochondrial dysfunction in their particular field, with this new release focusing on Mitochondrial dysfunction in Alzheimer's Disease, HIV and the mitochondrial: immune interface in the CNS, The Impact of mitochondrial damage in HIV-induced peripheral neuropathy, Mitochondrial dysfunction and the pathogenesis of chemotherapy-induced peripheral neuropathy, Disorders of mitochondrial biogenesis in peripheral neuropathy, Mitochondrial dysfunction and the pathogenesis of diabetic neuropathy, Manipulating mitochondria to treat peripheral neuropathy, and DCA therapy - the yin and yang of mitochondrial activation. Contains contributions from a diverse group of experts Presents a timely resource that brings together different fields to highlight a common pathogenic mechanism Focuses on the role of mitochondria in diverse neuropathies




Mitochondrial Dysfunction


Book Description

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


Book Description

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




Mitochondrial Disorders in Neurology


Book Description

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.




Clinical Mitochondrial Medicine


Book Description

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




Mitochondrial Disorders


Book Description

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.




Clinical Mitochondrial Medicine


Book Description

Mitochondrial disorders are a highly diverse group of conditions that can affect almost every major system in the human body, often mimicking common disorders. This clinical variety often results in prolonged and often dangerous, diagnostic delays. This textbook provides a practical framework, to enable rapid identification, investigation, and treatment of mitochondrial disorders across the spectrum of clinical practice. Clinically relevant and comprehensive, this textbook employs a system- and case-based approach for practitioners of all levels. It focuses on major phenotypic features, syndromes and management relevant for clinical practice, within a broad overview of the field. This interactive book supports readers with knowledge distilled from over 20 internationally recognized, mitochondrial experts.




Mitochondrial Case Studies


Book Description

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




Mitochondrial Disorders in Neurology 2


Book Description

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




New Methods of Sensory Visual Testing


Book Description

Measurement of visual acuity has been the cornerstone of visual testing since Snellen began quantitating visual acuity using letter optotypes in the 1860s. Bjerrum in the 1880s brought sophistication and quantitation to the assessment of the visual field with tangent screen examination using differently sized and colored targets. Further advances in visual testing did not occur until the Goldmann perimeter and the Farnsworth Munsell 100 Hue test were introduced in the 1940s, permitting further refinement in the detection and quantitation of acquired visual loss. An explosion of interest in sensory visual function testing followed the demonstration by Quigley and his colleagues in 1982 that despite the loss of more than 40% of the axons in the optic nerve, Snellen acuity and kinetic perimetry remained normal. Much of this interest has focused on a search for more sensitive and disease-specific sensory visual tests. Previously, novel tests used to probe visual function remained in the province of the visual physiologist and psychophysicist. These tests are now being introduced by the ophthalmologist into clinical practice. Concomitantly, the mass production of microcomputers and other technical advances have made tests such as automated perimetry and visual evoked response testing affordable for most offices. The clinician is presently being inundated with a plethora of visual function tests that may require a knowledge of visual psychophysics and statistics to understand and interpret. The purpose of this book is to acquaint the clinician with these new tests so that they may be used to maximum benefit.