Diagnosis and Management of Mitochondrial Disorders

Abstract

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. Intro; Preface; Mitochondrial Medicine: 30 Years Old, Much to Learn; Contents; Mitochondrial Medicine: A Historical Point of View; Introduction; 1950-1980; Leigh Syndrome; Chronic Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome; Luft Disease; Biochemical Classification of Mitochondrial Disease; 1980-1987; The Mapping of Human Mitochondrial DNA; 1989-2012; Mitochondrial Encephalomyopathies with CoQ10 Deficiency; Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS); 1988-1995; Mutations in the Mitochondrial DNA The mtDNA Bottleneck and Challenge in Genetic Counselling1996-2010; Maintenance Defects of Mitochondrial DNA; Clinical Rating Scales for Longitudinal Study; Establishment of the Prevalence of Mitochondrial Disease; 2011-2017; Revolution of Genetic Diagnosis with the Next-Generation Sequencing; Natural History and Cohort Studies; Treatment and Emerging Therapies for Mitochondrial Disease; Reproductive Options and Mitochondrial Donation; Conclusions; References; Mitochondria: Muscle Morphology; Introduction; Light Microscopy Studies; Succinate Dehydrogenase; Cytochrome c Oxidase SDH-COX Double StainMyopathology of Pediatric Mitochondrial Disorders; Immunocytochemistry; Immunolocalization of Nuclear DNA- and Mitochondrial DNA-Encoded Subunits of Respiratory Chain; Immunolocalization of Mitochondrial DNA; Electron Microscopy; Paracrystalline (Parking Lot) Inclusions (PCIs); Cristae Modifications; Mitochondria Hyperbranching; Fission and Fusion; Mitochondrial Morphology as a Tool for Basic Research and Treatment Implications; References; Mitochondrial Disease Genetics; Introduction; Genetic Etiologies of Primary Mitochondrial Disease MtDNA Causes of Mitochondrial DiseaseClasses of mtDNA Genes; Nuclear DNA Causes of Mitochondrial Disease; Inheritance of Nuclear Gene Cause…