The Sarcomere and Skeletal Muscle Disease
(Sprache: Englisch)
Although best known for its role in heart disease, the sarcomere--the fundamental unit of muscle contraction--is also involved in skeletal muscle diseases. Chapters in The Sarcomere and Skeletal Muscle Disease provide an up-to-date review of diseases caused...
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Although best known for its role in heart disease, the sarcomere--the fundamental unit of muscle contraction--is also involved in skeletal muscle diseases. Chapters in The Sarcomere and Skeletal Muscle Disease provide an up-to-date review of diseases caused by mutated proteins in the different sub-compartments of the sarcomere, document the techniques currently being used to investigate the pathobiological bases of the diseases, which remain largely unknown, and discuss possible therapeutic options.
Klappentext zu „The Sarcomere and Skeletal Muscle Disease “
Although best known for its role in heart disease, the sarcomere--the fundamental unit of muscle contraction--is also involved in skeletal muscle diseases. Chapters in The Sarcomere and Skeletal Muscle Disease provide an up-to-date review of diseases caused by mutated proteins in the different sub-compartments of the sarcomere, document the techniques currently being used to investigate the pathobiological bases of the diseases, which remain largely unknown, and discuss possible therapeutic options.
Inhaltsverzeichnis zu „The Sarcomere and Skeletal Muscle Disease “
Part I. The Sarcomere 1. The Sarcomere and Sarcomerogenesis 1
- Elisabeth Ehler and Mathias Gautel Abstract 1
- Introduction 1
- Insights in Sarcomere Assembly from Cell Culture Studies 3
- Associated Proteins, Scaffolds and Cofactors 5
- Sarcomere Assembly in vivo: What Is Different? 9
- Lessons from Knockout Animals 10
- Future Perspectives 11
Part II. Thin Filament Diseases
2. Skeletal Muscle Alpha-Actin Diseases 15
- Kathryn N. North and Nigel G. Laing Abstract 15
- Introduction 15
- Clinical Features 16
- Histopathology 18
- Genetics 18
- Molecular Modelling of the Effect of ACTA1 Mutations 22
- What Do the Patients Tell Us about the Pathophysiology of ACTA1 Diseases? 22
- What Do the Patients Tell Us about Possible Treatments? - Lessons from the Clinic in the Development of Therapies 24
- Future Directions 25
3. Nebulin-A Giant Chameleon 28
- Katarina Pelin and Carina Wallgren-Pettersson Abstract 28
- Introduction 28
- The Nebulin Protein 28
- The Nebulin Gene 30
- Mutations in the Nebulin Gene 32
- DNA-Diagnostic Dilemma 33
- Autosomal Recessive Nemaline (rod) Myopathy 33
- Autosomal Recessive Distal Nebulin Myopathy 35
- Conclusions (Future Applications, New Research, Anticipated Developments) 36
4. Skeletal Muscle Disease Due to Mutations in Tropomyosin, Troponin and Cofilin 40
- Nigel F. Clarke Abstract 40
- Introduction 40
- Mutations in Tropomyosin Associated with Skeletal Muscle Disease 41
- Concluding Remarks and Future Directions 50
5. Investigat ions into the Pathobiology of Thin-Filament Myopathies 55
- Biljana Ilkovski Abstract 55
- Introduction 55
- Actin 55
- Tropomyosin 60
- Nebulin 61
- Troponin 62
- a-Actinin 2 62
- Cofilin 63
- Conclusions and Future Directions 63
6. Mouse Models for Thin Filament Disease 66
- Mai-Anh T. Nguyen and Edna C. Hardeman Abstract 66
- Introduction 66
- Nemaline Myopathy 68
- Skeletal Muscle Alpha Actin (ACTA1) Diseases 68
- Nebulin (NEB) Diseases 68
- Tropomyosin
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Diseases 69
- Troponin and Cofilin Diseases 69
- Tropomyosin Mouse Model for Nemaline Myopathy 69
- Nebulin Null Mouse Models 71
- a-Skeletal Actin Mouse Models for Nemaline and Other Myopathies 71
- Mouse Models for Cardiomyopathies 72
- Therapies for NM-Insights from Mouse Models 72
- Future Directions 74
Part III. Thick Filament Diseases
7. Thick Filament Diseases 78
- Anders Oldfors and Phillipa J. Lamont Abstract 78
- Introduction 78
- Myopathies Associated with Myh2 Mutations 79
- Myopathies Associated with Myh3 Mutations 82
- Skeletal Myopathies Associated with Myh7 Mutations 83
- Myopathies Associated with Myh8 Mutations 88
- Future Perspectives, New Applications and Anticipated Developments 90
8. Acute Quadriplegic Myopathy: An Acquired "Myosinopat hy" 92
- Lars Larsson Abstract 92
- Introduction 92
- Underlying Mechanisms 93
- Experimental Animal Models 95
- Future Perspectives 96
- Part IV. Third Filament Diseases
9. Third Filament Diseases 99
- Bjarne Udd Abstract 99
- Introduction 99
- Titinopathies 101
- Calpainopathy 110
- Future Developments 113
- Part V. Z-Disk Diseases
10. The Z-Disk Diseases.........116
- Duygu Selcen and Olli Carpén Abstract 116
- Introduction 116
- Clinical Findings 116
- Z-Disk Disease Genes and Pathophysiology of Z-Disk Diseases 118
- Conclusions and Future Directions 128
Part VI. Intermediate Filament Diseases
11. Intermediate Filament Diseases: Desminopathy 131
- Lev G. Goldfarb, Montse Olivé, Patrick Vicart and Hans H. Goebel Abstract 131
- Introduction 131
- Intermediate Filaments of the Muscle 132
- Molecular Genetics 132
- Pathogenesis 144
- Clinical Manifestations 145
- Myopathology 150
- Diagnosis 155
- Relationships between Desminopathy and Other Myofibrillar Myopathies 158
- Treatment 160
- Concluding remarks 160
12. Muscular Integrity-a Matter of Interlinking Distinct Structures via Plectin 165
- Patryk Konieczny and Gerhard Wiche Abstract 165
- Cytolinkers and Striated Muscle Fibers 165
- Plectin, a Highly Versatile Cytolinker Protein 166
- Mutations in the Plectin Gene Cause Epidermolysis Bullosa (EB) 167
- Ablation of Plectin in Mice Results in Structural Aberrations in Muscle Cells 167
- The IF Network of Striated Muscle Fibers 168
- EB-MD as a Disease of Lost Connection between IFs, Z-disks and Costameres 170
- Future Directions 171
Part VII. Trophic Effects
13. The Sarcomere and the Nucleus: Functional Links to Hypertrophy, Atrophy and Sarcopenia 176
- Mathias Gautel Abstract 176
- Introduction 176
- Muscle LIM protein MLP (CRP3) 178
- Telethonin (TCAP) 179
- Calsarcin/FATZ/myozenin (MYOZ) 179
- ZASP/cipher/oracle (LDB3) 180
- Muscle Ankyrin Repeat Proteins 181
- FHL2 182
- MURFs (TRIM) 185
- Future Perspectives 186
Part VIII. Other Animal Models
14. Other Model Organisms for Sarcomeric Muscle Diseases 192
- John Sparrow, Simon M. Hughes and Laurent Segalat Abstract 192
- Introduction 192
- The Major Nonmammalian Model Genetic Animals 192
- What Makes These Special as Model Genetic Organisms for Studies of Muscle? 193
- Zebrafish (Danio rerio) 194
- Fruitfly (Drosophila melanogaster) 195
- Nematode (Caenorhabditis elegans) 196
- Genomes/Genetic Technologies of the Model Organisms 197
- Model Organism Studies of Human Muscular Disease 198
- Muscular Dystrophy 200
- Conclusions 202
Part IX. Possible Therapies
15. Therapeutic Approaches for the Sarcomeric Protein Diseases 207
- Kristen J. Nowak Abstract 207
- Introduction 207
- Experimental treatments for sarcolemmal muscular dystrophies 208
- Gene replacement therapy: adding a functional version of the gene 208
- Aminoglycoside antibiotics 215
- Precise correction of the mutation 215
- Antisense Oligonucleotides 216
- Proteasome Inhibitors 217
- Upregulation Therapy 217
- Manipulating pathways altered in muscle disease pathobiology 218
- Exercise 219
- RNA interference 219
- Conclusions and future applications 220
- Troponin and Cofilin Diseases 69
- Tropomyosin Mouse Model for Nemaline Myopathy 69
- Nebulin Null Mouse Models 71
- a-Skeletal Actin Mouse Models for Nemaline and Other Myopathies 71
- Mouse Models for Cardiomyopathies 72
- Therapies for NM-Insights from Mouse Models 72
- Future Directions 74
Part III. Thick Filament Diseases
7. Thick Filament Diseases 78
- Anders Oldfors and Phillipa J. Lamont Abstract 78
- Introduction 78
- Myopathies Associated with Myh2 Mutations 79
- Myopathies Associated with Myh3 Mutations 82
- Skeletal Myopathies Associated with Myh7 Mutations 83
- Myopathies Associated with Myh8 Mutations 88
- Future Perspectives, New Applications and Anticipated Developments 90
8. Acute Quadriplegic Myopathy: An Acquired "Myosinopat hy" 92
- Lars Larsson Abstract 92
- Introduction 92
- Underlying Mechanisms 93
- Experimental Animal Models 95
- Future Perspectives 96
- Part IV. Third Filament Diseases
9. Third Filament Diseases 99
- Bjarne Udd Abstract 99
- Introduction 99
- Titinopathies 101
- Calpainopathy 110
- Future Developments 113
- Part V. Z-Disk Diseases
10. The Z-Disk Diseases.........116
- Duygu Selcen and Olli Carpén Abstract 116
- Introduction 116
- Clinical Findings 116
- Z-Disk Disease Genes and Pathophysiology of Z-Disk Diseases 118
- Conclusions and Future Directions 128
Part VI. Intermediate Filament Diseases
11. Intermediate Filament Diseases: Desminopathy 131
- Lev G. Goldfarb, Montse Olivé, Patrick Vicart and Hans H. Goebel Abstract 131
- Introduction 131
- Intermediate Filaments of the Muscle 132
- Molecular Genetics 132
- Pathogenesis 144
- Clinical Manifestations 145
- Myopathology 150
- Diagnosis 155
- Relationships between Desminopathy and Other Myofibrillar Myopathies 158
- Treatment 160
- Concluding remarks 160
12. Muscular Integrity-a Matter of Interlinking Distinct Structures via Plectin 165
- Patryk Konieczny and Gerhard Wiche Abstract 165
- Cytolinkers and Striated Muscle Fibers 165
- Plectin, a Highly Versatile Cytolinker Protein 166
- Mutations in the Plectin Gene Cause Epidermolysis Bullosa (EB) 167
- Ablation of Plectin in Mice Results in Structural Aberrations in Muscle Cells 167
- The IF Network of Striated Muscle Fibers 168
- EB-MD as a Disease of Lost Connection between IFs, Z-disks and Costameres 170
- Future Directions 171
Part VII. Trophic Effects
13. The Sarcomere and the Nucleus: Functional Links to Hypertrophy, Atrophy and Sarcopenia 176
- Mathias Gautel Abstract 176
- Introduction 176
- Muscle LIM protein MLP (CRP3) 178
- Telethonin (TCAP) 179
- Calsarcin/FATZ/myozenin (MYOZ) 179
- ZASP/cipher/oracle (LDB3) 180
- Muscle Ankyrin Repeat Proteins 181
- FHL2 182
- MURFs (TRIM) 185
- Future Perspectives 186
Part VIII. Other Animal Models
14. Other Model Organisms for Sarcomeric Muscle Diseases 192
- John Sparrow, Simon M. Hughes and Laurent Segalat Abstract 192
- Introduction 192
- The Major Nonmammalian Model Genetic Animals 192
- What Makes These Special as Model Genetic Organisms for Studies of Muscle? 193
- Zebrafish (Danio rerio) 194
- Fruitfly (Drosophila melanogaster) 195
- Nematode (Caenorhabditis elegans) 196
- Genomes/Genetic Technologies of the Model Organisms 197
- Model Organism Studies of Human Muscular Disease 198
- Muscular Dystrophy 200
- Conclusions 202
Part IX. Possible Therapies
15. Therapeutic Approaches for the Sarcomeric Protein Diseases 207
- Kristen J. Nowak Abstract 207
- Introduction 207
- Experimental treatments for sarcolemmal muscular dystrophies 208
- Gene replacement therapy: adding a functional version of the gene 208
- Aminoglycoside antibiotics 215
- Precise correction of the mutation 215
- Antisense Oligonucleotides 216
- Proteasome Inhibitors 217
- Upregulation Therapy 217
- Manipulating pathways altered in muscle disease pathobiology 218
- Exercise 219
- RNA interference 219
- Conclusions and future applications 220
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Autoren-Porträt
Nigel G. Laing, PhD, is currently a Professorial Fellow in the Centre for Medical Research at the University of Western Australia, within the Western Australian Institute for Medical Research at the QEII Medical Centre in Western Australia and a Senior Medical Scientist in the Neurogenetic Laboratory at Royal Perth Hospital, Western Australia. He is however originally Scottish, doing his undergraduate studies, Honours in Pharmacology (1976), PhD in Physiology (1979), at the University of Edinburgh. His thesis was on the effects of bungarotoxin paralysis on motor neuron death in the developing chick embryo and was supervised by Martin Prestige. He had a one-year post-doc with Professor Jan Jansen in the Department of Physiology at the University of Oslo in 1980. After that he moved to the Department of Pathology at the University of Western Australia for another post-doc position with Alan Lamb from 1981-1987. In 1987-1988 he re-trained in molecular genetics with Professor Teepu Siddique in Professor Allen Roses' laboratory at Duke University, North Carolina, returning to Western Australia in July 1988 to develop both research and diagnostic molecular neurogenetics laboratories under Professor Byron Kakulas. The research laboratory (first in the Australian Neuromuscular Research Institute and subsequently in the Western Australian Institute for Medical Research), has played a role in showing SOD1 was a gene for familial amyotrophic lateral sclerosis. It also identified mutation of slow a-tropomyosin as the first known cause of the congenital myopathy nemaline myopathy, and mutations in skeletal muscle a-actin as a significant cause of congenital myopathies (especially severe congenital myopathies) and that certain specific mutations in the tail of slow skeletal/ss-cardiac myosin are associated with an early onset form of distal myopathy, now known as Laing distal myopathy. The Neurogenetic Laboratory at Royal Perth Hospital provides a state-wide molecular diagnostic
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service for neurological disorders, an Australasia-wide service for some of these disorders and is a world reference centre for the diagnosis of skeletal muscle a-actin and slow a-tropomyosin disorders.
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Bibliographische Angaben
- 2010, XXII, 228 Seiten, Masse: 17,8 x 25,4 cm, Kartoniert (TB), Englisch
- Herausgegeben: Nigel G. Laing
- Verlag: Springer, Berlin
- ISBN-10: 1441927417
- ISBN-13: 9781441927415
Sprache:
Englisch
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