The Cultured Cell and Inherited Metabolic Disease : Monograph Based Upon Proceedings of the Fourteenth Symposium of The Society for the Study of Inborn Errors of Metabolism

The use of cultured cells in the clinical diagnosis of hereditary metabolic dis­ ease is a rapidly developing subject to which many different disciplines have brought their expertise and knowledge. A number of scientists who have in­ dividually contributed to the growth of the subject gave invited papers at the Fourteenth Symposium of the Society for the Study of Inborn Errors of Metabolism in the University of Edinburgh on 13-16th July, 1976. These papers form the basis of this monograph which brings together contributions from the basic sciences and from physicians concerned primarily with human disease. The cross-fertilization produced by this interdisciplinary communica­ tion was invaluable to those trying to understand and overcome diagnostic problems posed by hereditary metabolic disease. Cell culture methods and cell preservation techniques were described by D. G. Harnden and D. E. Pegg; Dr T. Elsdale outlined some of the factors which control in vitro cell growth and division. Cell culture methods and cryopreser­ vation techniques have allowed the wide distribution of biochemically abnor­ mal cells and their study over long periods of time. It is also evident that when a defect which produces severe metabolic disorder in man can be studied in the laboratory using isolated cell cultures a wide variety of investigative procedures can be focused on to the cellular defect without distress or discomfort to the patient or relatives. Front Matter....Pages i-xiii Front Matter....Pages 1-1 Cell Biology and Cell Culture Methods—A Review....Pages 3-15 Influence of Cell Culture Medium on the Metabolic Behaviour of the Fibroblast....Pages 16-32 Density-dependent Growth Regulation in Cultures of Human Diploid Fibroblasts....Pages 33-42 Cryopreservation of Tissue Culture Cells....Pages 43-56 Tissue Culture in the Study of Neuromuscular Diseases....Pages 57-68 Culture of Neurons and Glial Cells....Pages 69-76 Front Matter....Pages 77-77 The Biochemistry of Cytodifferentiation: an Outline of Progress....Pages 79-89 A Comparison of Leucocytes and Cultured ‘Fibroblasts’ in Diagnosis....Pages 90-104 Acid Hydrolase Production, Release and Uptake by Cultured Fibroblasts....Pages 105-119 Sulphatase Deficiencies....Pages 120-138 Clinical, Biochemical and Genetic Heterogeneity in Gangliosidoses....Pages 139-160 The Cell Membrane in Metabolic Control: The Regulation of Cholesterol Biosynthesis in Familial Hypercholesterolaemia....Pages 161-184 Front Matter....Pages 185-185 Newer Developments in Tissue Culture: Further Aid in the Study of Inborn Errors of Metabolism....Pages 187-198 Back Matter....Pages 199-203