This volume contains the edited transcript of an interdisci plinary colloquium held at Totts Gap Medical Research Laboratories, Bangor, Pennsylvania on October 12-14, 1983 under the sponsorship of the Muscular Dystrophy Association. The aim was to illuminate the pathogenic mechanism of Duchenne Muscular Dystrophy through a synthesis of available data on gene expression in muscle. In the informal give and take ot the collo quium, the participants found themselves engaged in mutual education and enlightenment as they attempted to put together what is known and to highlight what is not known about the subject. Significant research into muscle as a tissue and muscle disease began only about 50 years ago although the description of muscular dystrophy by Guillaume Benjamin Amand Duchenne de Boulogne had been published in 1862. By 1943 it was clear that Duchenne muscular dystrophy was an X-linked genetic disorder. Up to the present, however, the offending gene has not been identified although its location on the short arm of the X chromosome has been approximately determined. The gene product associated with the initial disturbance in skeletal muscle has also remained elusive up to now. Moreover, investigations into the mechanisms of the muscle degeneration have been hampered by ignorance of the fundamental phenotypic expression of the genetic disorder.
Inhaltsverzeichnis
I Background. - 1: Clinical Perspective: Phenotypic Expression in Muscular Dystrophy. - 2: Ontologic Perspective: Terminal Differentiation and Maturation as Differently Regulated Stages of Muscle Development. - II Phenotypic Expression and Molecular Markers for Muscle Disease. - 3: Hereditary Metabolic Myopathies. - 4: Myosin Isoforms in Normal and Dystrophic Human and Murine Muscles. - 5: Distribution of Slow Myosin in Dystrophic Chicken Muscles. - 6: Satellite Cells in Normal, Regenerating and Dystrophic Muscles. - 7: Evidence for Defective Myoblasts in Duchenne Muscular Dystrophy. - III Regulatory Influences on Muscle Growth. - 8: Trophic Influences on Developing Muscle. - 9: Trophic and Myogenic Effects with Special Reference to Transferrin. - 10: Stimulation of the Synthesis of Fructose 1, 6-Diphosphate Aldolase by Transferrin. - 11: Myotrophic Factor(S) in Normal and Dystrophic Chicken Skeletal Muscle. - 12: Control of Myosin Isozymes During Myogenesis in the Rat. - 13: Influences of Testosterone on Contractile Proteins of the Guinea Pig Temporalis Muscle. - 14: Alterations in Phenotype Expression of Muscle by Chronic Nerve Stimulation. - 15: Induction of Incoordinate Synthesis of Muscle Proteins by the Tumor Promoter TPA and the Carcinogen Ems. - 16: Synthesis and Accumulation of Myosin Isozymes in Tissue Culture. - IV Regulating Expression of Protein Isoforms. - 17: Overview. - 18: Myosins A & B in the Organization of Myofilaments. - 19: A Set of Actin-Filament Associated Proteins Characterized by Quantitative Two-Dimensional Gel Electrophoresis. - 20: Muscle Gene Expression in Heterokaryons. - 21: Myosin Isozyme Transitions in Developing and Regenerating Rat Muscle. - 22: Myosin Expression During Regeneration and in Denervated Skeletal Muscle. - 23: Parvalbumin Reductionin Relation to Possible Perturbations of Ca2+ Homeostasis in Muscular Dystrophy. - 24: Myosin Isozymes in Developing Chicken Muscles. - V Recombinant DNA Approaches in the Investigation of Muscle Gene Expression. - 25: Introduction. - 26: Genetic Analysis of Duchenne Dystrophy. - 27: The Chromosomal Assignment of Muscle-Specific Genes. - 28: Expression of Isoforms from Cloned Skeletal and Cardiac Actin Genes. - 29: The Actin and Myosin Multigene Families. - 30: Multigene Families, Differential Transcription and Differential Splicing: Different Origin of Contractile Isoproteins in Muscle. - VI Summary and Synthesis. - 31: Summary and Synthesis. - Coda. - References. - Participants.
