Mitochondrial Diseases

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.

The first book treating the molecular aspects of mitochondrial diseases as well their diagnosis

Klappentext

This volume covers the molecular aspects of mitochondrial disorders and their diagnosis with particular emphasis on the mitochondrial tRNA structure and its various mutations. It further describes some key nuclear-encoded proteins involved in energy transduction and presents new aspects of mitochondrial DNA, e.g. its in vivo conformational changes, and models of deletions and partition. Moreover, it discusses the involvement of mitochondria in apoptosis, hormonal response and ageing. This volume also investigates the precise molecular import mechanisms of particular proteins and specific tRNAs into plants and yeast mitochondria relevant to human diseases.

Inhalt
1 Organization and Expression of the Mitochondrial Genome.- 2 Mitochondrial DNA Inheritance in Mammals.- 3 Molecular Basis of Mitochondrial DNA Diseases.- 4 Structural Studies on Human Mitochondrial tRNAs.- 5 Structure, Function and Pathology of Complex I.- 6 Complex II or Succinate: Quinone Oxidoreductase and Pathology.- 7 The bc1 Complex in the Mitochondrial Respiratory Chain.- 8 Cytochromec Oxidase and Mitochondrial Pathology.- 9 ATPase-ATPsynthase and Mitochondrial Pathology.- 10 Physiology and Pathophysiology of the Mitochondrial ADP/ATP Carrier.- 11 The Normal and Pathological Structure, Function and Expression of Mitochondrial Creatine Kinase.- 12 Pyruvate Dehydrogenase Deficiencies.- 13 Electrochemical Gradient and Mitochondrial DNA in Living Cells.- 14 A Heteroplasmic Strain of D. subobscura. An Animal Model of Mitochondrial Genome Rearrangement.- 15 Stability of the Mitochondrial Genome of Podospora anserina and Its Genetic Control.- 16 The Control of Ageing and Mitochondria.- 17 Roles of Mitochondria in Apoptosis.- 18 The Triiodothyronine Mitochondrial Pathway.- 19 Cytoskeleton-Mitochondrial Interactions.- 20 NADH Brain Determination by Micromeasurements of a Laser-Induced Fluorescence in the Rat.- 21 Allotopic Expression of Mitochondrial Genes: Further Steps in the Evolution of Eukaryotic Cells and Therapeutic Strategy.- 22 Import of tRNA into Yeast Mitochondria: Experimental Approaches and Possible Applications.- 23 The Import of Cytosolic tRNA into Plant Mitochondria.- 24 Plant Cytoplasmic Male Sterility: A Mitochondrial Pathology and Its Biotechnological Application.- 25 Histopathology of Skeletal Muscle Mitochondria.- 26 Enzymatic and Polarographic Measurements of the Respiratory Chain Complexes.- 27 Mitochondrial DNA Analysis.