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Tables of Contents for Mitochondrial Function and Dysfunction
Chapter/Section Title
Page #
Page Count
Contributors
xv
Preface
xix
SECTION I MITOCHONDRIAL STRUCTURE AND FUNCTION
Mitochondrial DNA Structure and Function
Carlos T. Moraes
Sarika Srivastava
Illias Kirkinezos
Jose Oca-Cossio
Corina vanWaveren
Markus Woischnick
Francisca Diaz
Mammalian Mitochondrial Genomes
3
2
The Human mtDNA
5
2
Structure of the Human mtDNA D-Loop Region
7
1
Mitochondrial DNA Replication
7
2
Initiation of L-Strand DNA Replication
9
1
Alternative Mode of mtDNA Replication
9
1
General Features of Factors Associated with mtDNA Replication
10
1
Regulation of mtDNA Replication
11
1
Mitochondrial Transcription
12
3
Translation of Mitochondrial Transcripts
15
2
Concluding Remarks
17
8
References
17
8
Oxidative Phosphorylation: Structure, Function, and Intermediary Metabolism
Simon J. R. Heales
Matthew E. Gegg
John B. Clark
Historical Background
25
2
The Mitochondrial Electron Transport Chain
27
18
Intermediary Metabolism
45
7
Concluding Remarks
52
5
References
52
5
Import of Mitochondrial Proteins
Matthias F. Bauer
Sabine Hofmann
Walter Neupert
Introduction
57
2
The Pathways of Mitochondrial Preprotein Import
59
19
Mitochondrial Biogenesis and Human Neurodegenerative Diseases
78
16
References
82
12
SECTION II PRIMARY RESPIRATORY CHAIN DISORDERS
Mitochondrial Disorders of the Nervous System: Clinical, Biochemical, and Molecular Genetic Features
Dominic Thyagarajan
Edward Byrne
Introduction
94
1
Historical Considerations
94
4
Genetics and Pedigree Studies
98
5
Clinical Features
103
2
Important Clinical Questions
105
1
Major Mitochondrial Syndromes
106
6
Biochemical Features
112
3
Diagnostic Approaches
115
8
Treatment of Mitochondrial Disorders
123
24
References
132
15
SECTION III SECONDARY RESPIRATORY CHAIN DISORDERS
Friedreich's Ataxia
J. M. Cooper
J. L. Bradley
Features of Friedreich's Ataxia
147
3
Effect of FRDA Gene Mutations
150
2
Models of FRDA
152
2
FRDA Molecular Mechanisms
154
8
Therapeutic Intervention
162
3
Conclusion
165
10
References
167
8
Wilson Disease
C. A. Davie
A. H. V. Schapira
The Role and Transport of Copper in Health
175
2
Aceruloplasminemia and Menkes' Disease
177
1
Experimental Models of Wilson Disease
178
1
Mitochondrial Dysfunction in Animal Models
179
1
Mitochondrial Dysfunction in Human Disease
180
2
Molecular Basis for the Variation in Phenotype
182
1
Diagnosis
183
1
Cranial Magnetic Resonance Imaging (MRI) and Spectroscopy in Wilson Disease
183
2
Treatment
185
2
Conclusion
187
4
References
187
4
Hereditary Spastic Paraplegia
Christopher J. McDermott
Pamela J. Shaw
Introduction
191
1
Clinical Features
192
1
Genetics
193
12
References
201
4
Cytochrome c Oxidase Deficiency
Giacomo P. Comi
Sandra Strazzer
Sara Galbiati
Nereo Bresolin
Cytochrome c Oxidase Biogenesis
205
4
Nuclear Genes Affecting COX Assembly and Stability
209
12
Nuclear Genes Affecting mtDNA Level and/or Stability
221
4
mtDNA Defects
225
18
References
233
10
SECTION IV TOXIN-INDUCED MITOCHONDRIAL DYSFUNCTION
Toxin-Induced Mitochondrial Dysfunction
Susan E. Browne
M. Flint Beal
Introduction
243
1
Inhibitors of Mitochondrial Complex I: NADH Ubiquinine Oxidoreductase
244
10
Inhibitors of Mitochondrial Complex II: Succinate Ubiquinol Oxidoreductase
254
4
Inhibitors of Mitochondrial Complex IV: Cytochrome c Oxidase
258
2
Manganese
260
2
3-Acetylpyridine
262
2
Myopathies and Myotoxic Agents
264
1
Discussion: What Determines the Regional and Cellular Specificity of Mitochondrial Toxins?
265
18
References
267
16
SECTION V NEURODEGENERATIVE DISORDERS
Parkinson's Disease
L. V. P. Korlipara
A. H. V. Schapira
Introduction
283
1
Mitochondrial Dysfunction in Parkinson's Disease
284
3
Etiology of Parkinson's Disease
287
7
Mitochondrial Dysfunction and the Pathophysiology of Parkinson's Disease
294
8
Concluding Remarks
302
13
References
303
12
Huntington's Disease: The Mystery Unfolds?
Åsa Petersen
Patrik Brundin
Huntington's Disease
315
1
Epidemiology and Symptomatology
316
1
Neuropathology
316
1
Genetics
317
1
Other Triplet Repeat Diseases
318
1
Intracellular Localization of Normal and Mutant Huntingtin
319
2
Function of Normal and Mutant Huntingtin
321
2
Cell Death in Huntington's Disease: Apoptosis and Authophagy
323
1
Oxidative Stress and Metabolic Dysfunction
324
1
Dopamine Toxicity
325
1
Transgenic Mouse Models of Huntington's Disease
326
2
Concluding Remarks
328
14
References
329
13
Mitochondria in Alzheimer's Disease
Russell H. Swerdlow
Stephen J. Kish
Introduction
342
1
Historical Overview and the Amyloid Cascade Hypothesis
342
2
Metabolic Dysfunction in Alzheimer's Disease has been Reported
344
1
Morphological Studies Demonstrate Mitochondrial Abnormalities in Alzheimer's Disease
345
1
PDHC and KGDHC in Alzheimer's Disease
345
1
Brain Biochemical Studies of Mitochondrial Enzymes in Alzheimer's Disease: Is Cytochrome Oxidase Reduction Characteristic of Alzheimer's Disease?
346
9
Is a Brain Cytochrome Oxidase Deficiency a Robust Feature of Alzheimer's Disease?
355
1
Studies of Cytochrome Oxidase in Non-CNS Tissues in Alzheimer's Disease: Clues to the Origin of the Enzyme Change?
356
2
Cytochrome Oxidase Dysfunction in Alzheimer's Disease: Possible Genetic Component?
358
3
Cytochrome Oxidase Dysfunction in Alzheimer's Disease: Genetic Studies are Still Inconclusive
361
5
Cybrid Data Suggest mtDNA Contributes to Alzheimer's Disease Cytochrome Oxidase Dysfunction
366
5
Unresolved Issues in Alzheimer's Disease Cybrid Studies: Where is the mtDNA ``Mutation?''
371
1
Could a Cytochrome Oxidase Defect Cause Alzheimer's Disease?
372
1
Concluding Remarks
373
14
References
375
12
Contributions of Mitochondrial Alterations, Resulting from Bad Genes and a Hostile Environment, to the Pathogenesis of Alzheimer's Disease
Mark P. Mattson
Overview of Neurodegenerative Cascades in Alzheimer's Disease
387
2
Mitochondrial Alterations in Alzheimer's Disease Patients and Experimental Models
389
5
Genetic Factors and Mitochondrial Alterations in Alzheimer's Disease
394
3
Environmental Factors and Mitochondrial Alterations in Alzheimer's Disease
397
4
Conclusions
401
10
References
401
10
Mitochondria and Amyotrophic Lateral Sclerosis
Richard W. Orrell
Anthony H. V. Schapira
Introduction
411
2
Clinical Features
413
1
Pathogenic Hypotheses
414
6
Transgenic Mouse Models of ALS
420
3
Conclusion
423
7
References
424
6
SECTION VI MODELS OF MITOCHONDRIAL DISEASE
Models of Mitochondrial Disease
Danae Liolitsa
Michael G. Hanna
Introduction
430
1
Classification of mtDNA Defects Causing Respiratory Chain Disease
431
1
Cell Models Employed to Study mtDNA Defects
432
2
Cell Models of Respiratory Chain Disease Associated with Specific mtDNA Defects
434
8
Classification of Nuclear DNA Defects Causing Respiratory Chain Disease
442
3
Cell Models of Respiratory Chain Disease Associated with Nuclear DNA Defects
445
2
Application of Cell Models for the Development of Therapeutic Strategies in mtDNA Disease
447
2
Animal Models of Respiratory Chain Disease
449
6
Other Models of Respiratory Chain Disease
455
2
Conclusions
457
12
References
458
11
SECTION VII DEFECTS OF β-OXIDATION INCLUDING CARNITINE DEFICIENCY
Defects of β-Oxidation Including Carnitine Deficiency
K. Bartlett
M. Pourfarzam
Introduction
469
1
Background Biochemistry
470
10
Inherited Disorders of Mitochondrial β-Oxidation
480
25
Conclusions
505
14
References
505
14
SECTION VIII MITOCHONDRIAL INVOLVEMENT IN AGING
The Mitochondrial Theory of Aging: Involvement of Mitochondrial DNA Damage and Repair
Nadja C. De Souza-Pinto
Vilhelm A. Bohr
Mitochondria: The Biological Clock?
519
1
Oxidative Damage to Mitochondria
520
2
Accumulation of Oxidative Damage to mtDNA
522
3
DNA Repair in Mammalian Mitochondria
525
3
Changes in mtDNA Repair with Age
528
2
Conclusions
530
5
References
530
5
Index
535
14
Contents of Recent Volumes
549