Mitochondrial Disorders
Springer Editions (Verlag)
978-2-287-59759-6 (ISBN)
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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 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 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.
Introduction.- I. Mitochondrial Biology: 1. The Mitochondrial Machinery. 2. Mitochondria in Neurodegeneration. 3. Apoptosis and Oxidative Stress in Mitochondrial Disorders. 4. Mitochondria and Ageing. 5. Cardiac Mitochondrial Dysfunction in Ageing and in Ischemia/Reperfusion. Role of Oxygen Free Radicals and Cardiolipin. 6. Deregulation of Mitochondrial Apoptosis in Cancer.- II. Iatrogenic Mitochondrial Diseases: 7. Drug Induced Hepatotoxicity and Mitochondrial Dysfunction. 8. The Carnitine System Involvement in Mitochondrial Pharmacologic Sensitivity. 9. Mitochondrial Toxicity of Antiretroviral Drugs. 10. Mitochondrial Damage in HIV Patients Treated with Highly Active Antiretroviral Therapy. 11. Hyperlactatemia and HIV-infected Patients with Nucleoside Analog Reverse-Transcriptase Inhibitors Treatment: The Clermont HIV Cohort Study. 12. Severe Lactic Acidosis and Multiple Organ Failure in HIV Patients Treated with Nucleoside Analogues Reverse Transcriptase Inhibitors: A Pilot Study of Treatment with L-Carnitine. 13. Mitochondrial Dysfunction in Perinatal Exposure to Antiretroviral Nucleoside Analogues. 14. Mitochondrial Myopathy in Non-infected New-Born from HIV-1 Mothers Treated with Antiretroviral Drugs.- III. Mitochondrial Medicine: 15. Neurological Features of Genetic and Acquired Metabolic Mitochondrial Defects. 16. Clinical Heterogeneity Associated to Dysfunction of Mitochondrial DNA: The example of the 3243 MELAS Mutation. 17. Inborn and Acquired Mitochondrial Leucodystrophy. 18. Mitochondrial Dysfunction, Epilepsy, and Antiepileptic drugs. 19. Friedreich Ataxia as an Example of the Dual Genome Control of Mitochondrial Function. 20. How Wide are Mitochondria Involved in Exercise Intolerance? 21. Mitochondrial Defects in Myositis and Inclusion Body Myopathies. 22. Mitochondrial Dysfunction and the Gastrointestinal System. 23. Mitochondrial Diabetes: Clinical Specificity and Diagnosis. 24. Mitochondrial Featuring in Kidney Disorders and Myelodysplastic Syndromes.- IV. Treatment: 25. Treatment of Mitochondrial Diseases.
| Co-Autor | S. Di Mauro |
|---|---|
| Zusatzinfo | 34 black & white illustrations, biography |
| Verlagsort | Paris |
| Sprache | englisch |
| Gewicht | 720 g |
| Einbandart | gebunden |
| Themenwelt | Medizinische Fachgebiete ► Innere Medizin ► Endokrinologie |
| Medizin / Pharmazie ► Medizinische Fachgebiete ► Neurologie | |
| Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik | |
| ISBN-10 | 2-287-59759-X / 228759759X |
| ISBN-13 | 978-2-287-59759-6 / 9782287597596 |
| Zustand | Neuware |
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