Lysosomal disorders of the brain: recent advances in molecular and cellular pathogenesis and treatment
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《神经病学神经外科学杂志》
By Frances M Platt, Steven U Walkley. Oxford: Published by Oxford University Press, 2004, ￡85.00 (hardback), pp 430. ISBN 0-19-850878-6
This is a marvellous book. It is comprehensive in its coverage and also gives much hope for the future. The authors of the individual chapters are held in international renown for their work and on the whole the book is skilfully edited and beautifully set.
The book addresses recent advances in molecular and cellular pathogenesis, and treatment of lysosomal disorders of the brain. The book is organised into four sections. Firstly, there is an overview of the endosomal-lysosomal system and storage disorders. This includes the known biology of the endosomal-lysosomal system, a new way of classifying lysosomal diseases on the basis of the molecular defects, and the clinical approach and diagnosis. The next section examines the molecular mechanisms of storage. This includes the primary defects in lysosomal enzymes, defects in lysosomal enzyme modification, trafficking and protection, and defects in activator proteins and in lysosomal transmembrane proteins. This is followed by a section on model system pathophysiological mechanisms. This includes non-mammalian and mammalian storage disease models and the pathogenic cascades causing brain dysfunction. The final section relates to the treatment of lysosomal storage and diseases. Treatment approaches include enzyme replacement therapy, cell mediated delivery systems, inhibition of substrate synthesis, and, finally, gene therapy. This layout makes an authorative and comprehensive review of lysosomal disorders of the brain. In addition to this comprehensive account of the current understanding of lysosomal disorders of the brain, there is also a Foreward written by H G Hers who developed the concept of inborn lysosomal disorders, and a moving Prologue about family life, work, and dilemmas when children and young people are affected by an inborn lysosomal disorder.
Throughout the book it is evident that the investigation of inborn lysosomal disorders has become a tool for learning about the biology of normal cell systems. This is further emphasised by the classification of these disorders, which emphasises the functions of the defective proteins. One of the editors’ aims for this book is to broaden the disciplines of scientists and clinicians to consider the richness of storage diseases as a focus for research. This book will certainly achieve that. This book also reflects the progress of medical science over the 20th century and into the 21st. Many of the lysosomal disorders of the brain were first described at the beginning of the 20th century as enigmatic, eponymous clinical conditions. At the beginning of the 21st century these disorders are now exquisitely defined by gene, protein, and clinical condition. The book also clearly shows the optimism for finding a cure for these otherwise fatal neurological conditions.(R Surtees)
This is a marvellous book. It is comprehensive in its coverage and also gives much hope for the future. The authors of the individual chapters are held in international renown for their work and on the whole the book is skilfully edited and beautifully set.
The book addresses recent advances in molecular and cellular pathogenesis, and treatment of lysosomal disorders of the brain. The book is organised into four sections. Firstly, there is an overview of the endosomal-lysosomal system and storage disorders. This includes the known biology of the endosomal-lysosomal system, a new way of classifying lysosomal diseases on the basis of the molecular defects, and the clinical approach and diagnosis. The next section examines the molecular mechanisms of storage. This includes the primary defects in lysosomal enzymes, defects in lysosomal enzyme modification, trafficking and protection, and defects in activator proteins and in lysosomal transmembrane proteins. This is followed by a section on model system pathophysiological mechanisms. This includes non-mammalian and mammalian storage disease models and the pathogenic cascades causing brain dysfunction. The final section relates to the treatment of lysosomal storage and diseases. Treatment approaches include enzyme replacement therapy, cell mediated delivery systems, inhibition of substrate synthesis, and, finally, gene therapy. This layout makes an authorative and comprehensive review of lysosomal disorders of the brain. In addition to this comprehensive account of the current understanding of lysosomal disorders of the brain, there is also a Foreward written by H G Hers who developed the concept of inborn lysosomal disorders, and a moving Prologue about family life, work, and dilemmas when children and young people are affected by an inborn lysosomal disorder.
Throughout the book it is evident that the investigation of inborn lysosomal disorders has become a tool for learning about the biology of normal cell systems. This is further emphasised by the classification of these disorders, which emphasises the functions of the defective proteins. One of the editors’ aims for this book is to broaden the disciplines of scientists and clinicians to consider the richness of storage diseases as a focus for research. This book will certainly achieve that. This book also reflects the progress of medical science over the 20th century and into the 21st. Many of the lysosomal disorders of the brain were first described at the beginning of the 20th century as enigmatic, eponymous clinical conditions. At the beginning of the 21st century these disorders are now exquisitely defined by gene, protein, and clinical condition. The book also clearly shows the optimism for finding a cure for these otherwise fatal neurological conditions.(R Surtees)