Detection of Mitochondrial Diseases

Front Matter....Pages i-3
Front Matter....Pages 4-4
Diagnosis of defects in oxidative muscle metabolism by non-invasive tissue oximetry....Pages 7-10
 In vivo assessment of human skeletal muscle mitochondria respiration in health and disease....Pages 11-15
Non-invasive quantitative 31 P MRS assay of mitochondrial function in skeletal muscle in situ ....Pages 17-22
Phosphorus metabolite distribution in skeletal muscle: Quantitative bioenergetics using creatine analogs....Pages 23-28
A theoretical model of some spatial and temporal aspects of the mitochondrion creatine kinase myofibril system in muscle....Pages 29-32
Fluxes through cytosolic and mitochondrial creatine kinase, measured by P-31 NMR....Pages 33-42
Experimental evidence for dynamic compartmentation of ADP at the mitochondrial periphery: Coupling of mitochondrial adenylate kinase and mitochondrial hexokinase with oxidative phosphorylation under conditions mimicking the intracellular colloid osmotic pressure....Pages 43-51
Front Matter....Pages 53-53
Small scale preparation of skeletal muscle mitochondria, criteria of integrity, and assays with reference to tissue function....Pages 55-60
Rapid isolation of muscle and heart mitochondria, the lability of oxidative phosphorylation and attempts to stabilize the process in vitro by taurine, carnitine and other compounds....Pages 61-66
Tetraphenylphosphonium inhibits oxidation of physiological substrates in heart mitochondria....Pages 67-70
High resolution respirometry of permeabilized skeletal muscle fibers in the diagnosis of neuromuscular disorders....Pages 71-78
Detection of early ischemic damage by analysis of mitochondrial function in skinned fibers....Pages 79-85
The effects of ischemia and experimental conditions on the respiration rate of cardiac fibers....Pages 87-90
Insulin as a probe of mitochondrial metabolism in situ ....Pages 91-96
Detection of mitochondrial defects by laser fluorimetry....Pages 97-100
Oxidative phosphorylation in myocardial mitochondria ‘in situ’ : a calorimetric study on permeabilized cardiac muscle preparations....Pages 101-113
Nicotinamide adenine dinucleotides permeate through mitochondrial membranes in human Epstein-Barr virus-transformed lymphocytes....Pages 115-119
Reversibility of thiamine deficiency-induced partial necrosis and mitochondrial uncoupling by addition of thiamine to neuroblastoma cell suspensions....Pages 121-124
Dihydroorotat-ubiquinone oxidoreductase links mitochondria in the biosynthesis of pyrimidine nucleotides....Pages 125-129
Regulation of respiration and energy transduction in cytochrome c oxidase isozymes by allosteric effectors....Pages 131-135
Front Matter....Pages 53-53
Thermodynamic regulation of cytochrome oxidase....Pages 137-141
Metabolic control analysis and threshold effect in oxidative phosphorylation: Implications for mitochondrial pathologies....Pages 143-148
Identification of mitochondrial deficiency using principal component analysis....Pages 149-156
Front Matter....Pages 157-157
The mitochondrial permeability transition in toxic, hypoxic and reperfusion injury....Pages 159-165
Cyclosporin A binding to mitochondrial cyclophilin inhibits the permeability transition pore and protects hearts from ischaemia/reperfusion injury....Pages 167-172
Hormonal stimulation, mitochondrial Ca 2+ accumulation, and the control of the mitochondrial permeability transition in intact hepatocytes....Pages 173-179
Two modes of activation of the permeability transition pore: The role of mitochondrial cyclophilin....Pages 181-184
Implication of mitochondria in apoptosis....Pages 185-188
Nitric oxide inhibition of cytochrome oxidase and mitochondrial respiration: Implications for inflammatory, neurodegenerative and ischaemic pathologies....Pages 189-192
The role of mitochondrial dysfunction and neuronal nitric oxide in animal models of neurodegenerative diseases....Pages 193-197
Role of endogenous and exogenous antioxidants in the defence against functional damage and lipid peroxidation in rat liver mitochondria....Pages 199-205
Front Matter....Pages 207-207
Analysis of the mitochondrial DNA from patients with Wolfram (DIDMOAD) syndrome....Pages 209-213
Point mutations in the mitochondrial tRNA Lys gene: Implications for pathogenesis and mechanism....Pages 215-219
Detection of mitochondrial DNA deletions by a screening procedure using the polymerase chain reaction....Pages 221-225
Regulation of mitochondrial transcription by mitochondrial transcription factor A....Pages 227-230
Multiple mitochondrial tRNA Leu[UUR] mutations associated with infantile myopathy....Pages 231-236
Carnitine palmitoyltransferase II deficiency: Diagnosis by molecular analysis of blood....Pages 237-239
Front Matter....Pages 241-241
Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complex....Pages 243-247
Chemical preconditioning: A cytoprotective strategy....Pages 249-254
Inhibition of complex I by neuroleptics in normal human brain cortex parallels the extrapyramidal toxicity of neuroleptics....Pages 255-259
Front Matter....Pages 241-241
Adenine nucleotide translocator in dilated cardiomyopathy: Pathophysiological alterations in expression and function....Pages 261-269
Mitochondrial DNA mutations in multiple symmetric lipomatosis....Pages 271-275
Mitochondrial abnormalities and peripheral neuropathy in inflammatory myopathy, especially inclusion body myositis....Pages 277-281
Mitochondrial intermembrane inclusion bodies: The common denominator between human mitochondrial myopathies and creatine depletion, due to impairment of cellular energetics....Pages 283-289
Metabolic interventions against complex I deficiency in MELAS syndrome....Pages 291-296
Clinical, morphological, biochemical, and neuroradiological features of mitochondrial encephalomyopathies. Presentation of 19 patients....Pages 297-303
Reactive oxygen species, mitochondria, apoptosis and aging....Pages 305-319
Ageing: Effects on oxidative function of skeletal muscle in vivo ....Pages 321-324
Mitochondrial involvement in the ageing process. Facts and controversies....Pages 325-328
Mitochondrial Complex I defects in aging....Pages 329-333
Back Matter....Pages 335-340