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 PDF
Preview 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 Cultured Cell and Inherited Metabolic Disease Previous Symposia of the Society for the Study of Inborn Errors of Metabolism- 1. Neurometabolic Disorders in Childhood. Ed. K. S. Holt and J. Milner 1963 2. Biochemical Approaches to Mental Handicap in Children. Ed. J. D. Allan and K. S. Holt 1964 3. Basic Concepts of Inborn Errors and Defects of Steroid Biosynthesis. Ed. K. S. Holt and D. N. Raine 1965 4. Some Recent Advances in Inborn Errors of Metabolism. Ed. K. S. Holt and V. P. Coffey 1966 5. Some Inherited Disorders of Brain and Muscle. Ed. J. D. Allan and D. N. Raine 1969 6. Enzymopenic Anaemias, Lysosomes and other papers. Ed. J. D. Allan, K. S. Holt, J. T. Ireland and R. J. Pollitt 1969 7. Errors of Phenylalanine Thyroxine and Testosterone Metabolism. Ed. W. Hamilton and F. P. Hudson 1970 8. Inherited Disorders of Sulphur Metabolism. Ed. N. A. J. Carson and D. N. Raine 1971 9. Organic Acidurias. Ed. J. Stern and C. Toothill 1972 10. Treatment of Inborn Errors of Metabolism. Ed. J. W. T. Seakins, R. A. Saunders and C. Tooth ill 1973 11. Inborn Errors of Skin, Hair and Connective Tissue. Ed. J. B. Holton and J. T. Ireland 1975 12. Inborn Errors of Calcium and Bone Metabolism. Ed. H. Bickel and J. Stern 1976 13. Medico-Social Management of Inherited Metabolic Disease. Ed. D. N. Raine 1977 The Society exists to promote exchanges of ideas between workers in different disciplines who are interested in any aspect of inborn metabolic disorders. Par ticulars of the Society can be obtained from the Editors of this Symposium. • Symposia 1-10 published by E. & S. Livingstone 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 EDITED BY R. A. Harkness and F. Cockburn MTP Published by MTP Press Limited PO Box 55, St. Leonard's House St. Leonardgate, Lancaster, England © 1977 The Society for the Study of Inborn Errors of Metabolism Softcover reprint of the hardcover 1st edition 1977 First Published 1977 No part of this book may be reproduced in any form without permission from the publisher except for the quotation of brief passages for the purposes of review ISBN-I3: 978-94-011-6629-4 e-ISBN-I3: 978-94-011-6627-0 DOl: 10.1007/978-94-011-6627-0 Text set in 11/12 pt Photon Imprint, Great Britain at The Pitman Press, Bath Contents Preface Vll List of Contributors Xl Cell Biology 1 Cell Biology and Cell Culture Methods-A Review 3 D. G. Harnden 2 Influence of Cell Culture Medium on the Metabolic Behaviour of the Fibroblast 16 S. O. Lie 3 Density-dependent Growth Regulation in Cultures of Human Diploid Fibroblasts 33 T. Elsdale 4 Cryopreservation of Tissue Culture Cells 4·3 D. E. Pegg 5 Tissue Culture in the Study of Neuromuscular Diseases 57 V. Dubowitz 6 Culture of Neurons and Glial Cells 69 J. E. Thompson Biochemistry 7 The Biochemistry of Cytodifferentiation: an Outline of Progress 79 D. E. S. Truman 8 A Comparison of Leucocytes and Cultured 'Fibroblasts' in Diagnosis 90 R. A. Harkness 9 Acid Hydrolase Production, Release and Uptake by Cultured Fibroblasts 105 K. von Figura 10 Sulphatase Deficiencies 120 A. B. Roy VI THE CULTURED CELL AND INHERITED METABOLIC DISEASE 11 Clinical, Biochemical and Genetic Heterogeneity in Gangliosidoses 13 H. Galjaard and A. J. J. Reuser 12 The Cell Membrane in Metabolic Control: The Regulation of Cholesterol Biosynthesis in Familial Hypercholesterolaemia 16 F. W. Robertson Milner Lecture 13 Newer Developments in Tissue Culture: Further Aid in the Study of Inborn Errors of Metabolism 18~ J. E. Seegmiller Short Papers Index 20 Preface 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. Many different laboratories employing their own specialized techniques can contribute to the diagnosis, management, cure and prevention of the metabolic defect. Confirmation of results is needed because there are many pitfalls in work on cultured cells as shown by S. O. Lie in his contribution on the influence of cell culture medium on the metabolic behaviour of the fibroblast. Cultured cells have so far been used extensively in studies on generally dis tributed systems such as the lysosomal acid hydrolases. In recent years the culture of specialized cells has been developing and is reviewed for neuromuscular systems by V. Dubowitz and for neurons and glial cells by E. J. Thompson. Both have suggested possible future applications for these sur prisingly highly developed methods. viii THE CULTURED CELL AND INHERITED METABOLIC DISEASE The biochemical section opens with an outline of the biochemistry of cytodifferentiation which shows many areas of our present knowledge with no apparent 'pathology' and aptly concludes with a plea to clinicians for evidence of such abnormalities. In the following comparison of leucocytes and cultured 'fibroblasts' in diagnosis, the difference is shown between a differentiated cell, the phagocytic microbicidal polymorphonuclear neutrophil leucocyte and the basic undifferentiated cultured 'fibroblast'. This section also contains a framework for the individual contributions to this monograph and an outline of present practice in the diagnosis of hereditary metabolic disease. The next three contributions are concerned with deficiencies of lysosomal acid hydrolases which cause a wide range of storage disorders. The value of communication between the basic sciences and medicine is beautifully il lustrated by these papers from Germany, Holland and Australia. Defects in control of biosynthesis is considered next with a review of a defect in the control of cholesterol biosynthesis by a geneticist, F. W. Robertson. Finally in the Milner Lecture, Newer Developments in Tissue Culture: Further Aid in the Study of Inborn Errors of Metabolism, Professor J. E. Seegmiller's own many contributions to our knowledge of the biochemistry of purines are reviewed. He also discusses the transformation of lymphocytes and the establishment of stable cell lines which carry defects. This exciting develop ment may well further the progress of the study of inborn errors of metabolism, and of biochemistry. It should also help the many families who carry such defects. Invited papers of the symposium were followed by 21 papers and demonstrations by members of the Society. The majority of papers presented new data which were a further but more detailed development of the theme of the meeting and fell into three categories, cultured cells and organic acid metabolism, cultured cells and acid hydrolase deficiencies and methodological developments. These were preceded by invited introductions by D. Gompertz on organic acid metabolism and by M. F. Niermeijer on methodological developments. These papers are listed in this monograph and will be published. Our main aim has been to provide a practical and theoretical background for the very varied requirements of work on hereditary metabolic disease using cultured cells. We therefore hope that our attempt to provide a framework for interdisciplinary communication which has been so well supported by the authors themselves will be of help in medical practice, research and possibly in teaching. We must express the thanks of all involved to Mr J. Milner for his generous support. We were privileged to have Dr G. Komrower as president, host and chairman during the meeting. It is also a pleasure to thank the City of Edin burgh for its warm and generous hospitality which was so much enjoyed by all, particularly by our many overseas colleagues. This meeting would not have been possible but for the kindness and efficiency of many members of the staff of the University of Edinburgh and of its teaching hospitals, especially the PREFACE ix Royal Hospital for Sick Children, Edinburgh and the staff of the Biochemistry Department at Alder Hey Children's Hospital. Our special thanks are also due to the many people who have helped in the preparation of this book. Forrester Cockburn R. Angus Harkness List of Contributors A. ADAMS Department of Paediatric Biochemistry, Royal Hospital for Sick Children, Sciennes Road, Edinburgh EH9 ILJ N. R. BELTON Department of Child Life and Health, University of Edinburgh Medical School, Hatton Place, Edinburgh EH9 I UW G. T. N. BESLEY Department of Pathology, Royal Hospital for Sick Children, Sciennes Road, Edinburgh EH9 ILF M. E. BLASCOVICS Children's Hospital, 4650 Sunset Boulevard, Los Angeles, California 90027, USA K. B. BLAU Barron Memorial Research Laboratories, Queen Charlotte's Maternity Hospital, Goldhawk Road, London W6 OXG N. J. BRANDT Department of Teratology, Rigshospitalet, Juliane Mariesvej, DK2100 Copenhagen, Denmark D. M. BROADHEAD Department of Pathology, Royal Hospital for Sick Children, Sciennes Road, Edinburgh EH9 ILF EDNA BROWN Division of Inherited Metabolic Disease, MRC Clinical Research Centre, Northwick Park Hospital, Watford Road, Harrow, Middlesex J. BUTTERWORTH Department of Pathology, Royal Hospital for Sick Children, Sciennes Road, Edinburgh EH9 ILF NINA CARSON Nuffield Department of Child Health, Institute of Clinical Science, Grosvenor Road, Belfast BTl2 6BJ, Northern Ireland R. A. CHALMERS Division of Inherited Metabolic Disease, MRC Clinical Research Centre, Northwick Park Hospital, Watford Road, Harrow, Middlesex E. CHRISTENSEN Department of Teratology, Rigshospitalet, Juliane Mariesvej, DK2100 Copenhagen, Denmark F. COCKBURN Paediatric Laboratory, Simpson Memorial Maternity Pavilion, Lauriston Place, Edinburgh EH3 9EF V. DUBOWITZ Department of Paediatrics, Royal Postgraduate Medical School, Hammersmith Hospital, Du Cane Road, London Wl2 OHS
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