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A Complete coverage of mitochondrial diseases
Genetics of Mitochondrial Diseases
Edited by Ian James Holt
376 pages
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2pp colour plates, numerous tables and figures
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240x168mm
978-0-19-850865-6
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Hardback
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03 July 2003
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This item is printed to order and supplied on a firm sale basis. Items which are printed to order are normally despatched and charged within 5-10 days.
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- Explains the genetic basis of mitochondrial diseases enabling the reader to understand why mitochondrial diseases often do not follow the pattern of transmission of other forms of disease
- Integrates clinical and molecular aspects of the diseases indicating why the diseases manifest in particular forms
- Summarises 15 years of work in a field for which there is little information in other books
Molecular genetics has revolutionised our understanding of human disease and nowhere is this more apparent than the group of diseases caused by mitochondrial dysfunction. The concept of mitochondrial diseases dates back only as far as the 1960s, and they were given little credence until mutations in mitochondrial DNA were found in the late 1980s. This international edited book summarises the advances in human mitochondrial genetics made over the past decade and a half. During that time, numerous mutations of mitochondrial DNA have been discovered and more recently mitochondrial diseases have been linked to a number of
nuclear gene mutations. Although individually rare, mitochondrial diseases collectively represent a common cause of genetic disease. They have myriad effects and often manifest as common disorders such as diabetes, cardiac dysfunction and neurodegenerative disease. Effective treatments are unlikely to be found for some time for the vast majority of mitochondrial disorders and so pre-natal diagnosis and genetic counselling are of primary importance in the management of mitochondrial disease.
In order to make sense of the diversity of mitochondrial disease the reader is first treated to a review of mitochondrial DNA metabolism and normal mitochondrial function. The core of the book details specific mitochondrial and nuclear mutations and the diseases they cause,
whilst at the same time providing further insight into mitochondrial function. Later sections assess the role of cellular and animal models in advancing our understanding of mitochondrial diseases and the prospects for novel therapeutic strategies to combat these enigmatic disorders.
Mitochondrial diseases are an increasingly recognised cause of inherited disease. Most clinicians are now aware of this group of diseases and those involved in genetic counselling will recognise the need for a greater understanding of this group of disorders. This book will also appeal to scientific and medical geneticists, and to registrars who encounter this group of diseases in the clinic.Readership:
Aimed primarily at scientific and medical geneticists; clinicians, particularly those involved in pre-natal diagnosis and counselling for genetic disorders. The book should also prove useful to registrars who encounter this group of diseases in the clinic.
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Edited by Ian James Holt, Group Leader & MRC Career Scientist, Medical Research Council, Dunn Human Nutrition Unit, Wellcome Trust, Cambridge, UK Contributors:
B. Bigger, Department of Neurology, The University of Newcastle upon Tyne, Newcastle upon Tyne, UK
J Mark Cooper, Department of Clinical Neurosciences, Royal Free & University College Medical School, London, UK
Aubrey de Grey, Department of Genetics, Cambridge, UK
J Antonio Enriquez , Departamento de Bioquimica y Biologia Molecular y Celular, Universidad de Zaragoza, Spain
Michael G Hanna, Consultant Neurologist & Senior Clinical Lecturer in
Neurogenetics, National Hospital for Neurology and Institute of Neurology, London UK
Neil Howell, Biology Division, Department of Radiation Oncology, The University of Texas Medical Branch, Galveston, Texas, USA
Howard Jacobs, Institute of Medical Technology & Tampere University Hospital, Finland
Carla Koehler, Department of Chemistry and Biochemistry, Los Angeles, California, USA
Nils-Göran Larsson , Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
Robert Lightowlers, Department of Neurology, The University of Newcastle upon Tyne, Newcastle upon Tyne, UK
Michael P Murphy, Dunn Human Nutrition Unit , Wellcome Trust/MRC Building, Cambridge, UK.
Joanne Poulton, University of Oxford,
John Radcliffe Hospital, Headington, Oxford, UK
Eric A Schon, Department of Genetics and Development, Columbia University New York, New York, USA
Johannes Spelbrink, Institute of Medical Technology and Tampere University Hospital, Finland
Anu Suomalainen-Wartiovaara, Biomedicum Helsinki, Programme of Neurosciences, Helsinki University, Finland
R. W. Taylor, Department of Neurology, The University of Newcastle upon Tyne, Newcastle upon Tyne, UK
Douglas Turnbull, Department of Neurology, The University of Newcastle upon Tyne, Newcastle upon Tyne, UK
Marten Wikstrom, Helsinki Bioenergetics Group, Department of Medical Chemistry, Institute of Biomedical Sciences, University of Helsinki, Finland
Jan-Willem
Taanman, Department of Clinical Neurosciences, Royal Free & University College Medical School. London, UK
Massimo Zeviani, Division of Biochemistry & Genetics, National Neurological Institute, Milan, Italy
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"The publication of Genetics of Mitochondrial Diseases . . . is well timed to take account of recent advances in this specialty . . . I highly recommend this book . . . Basic scientists will benefit from the well written and informative sections on the relations between mitochondrial biochemical dysfunction and human disease. Clinicians will find important scientific background and assessment of the importance of various genetic defects. Other book have recently been published in this area, but I think the present volume is entirely complementary to these, and an important addition." - The Lancet
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Section I: Mitochondrial Structure and Function
1: Johannes Spelbrink: Replication, repair and recombination of mitochondrial DNA
2: Jan-Willem Taanman: Mitochondrial DNA expression
3: Carla Koehler: Mitochondrial biogenesis
4: Marten Wikstrom: Oxidative phosphorylation
Section II: Pathological Mutations of Mitochondrial DNA
5: Michael G Hanna: Clinical aspects of mitochondrial encephalomyopathies
6: Eric A Schon: Rearrangements of mitochondrial DNA
7: Howard Jacobs: Pathological mutations affecting mitochondrial protein synthesis
8: Neil Howell: Pathogenic mitochondrial DNA mutations in genes that encode respiratory chain subunits
Section III: Nuclear Genes and Mitochondrial Disease
9: Anu Suomalainen-Wartiovaara: Multiple mitochondrial DNA deletions and mitochondrial DNA depletion
10: Massimo Zeviani: Nuclear gene mutations in mitochondrial disorders
Section IV: Cell function, neurodegenerative disorders and ageing
11: Michael P Murphy: The effects of mitochondrial DNA mutations on cell function
12: J Mark Cooper: Mitochondrial dysfunction in neurodegenerative disease
13: Aubrey de Grey: Mechanisms underlying the age-related accumulation of mutant mitochondrial DNA
Section V: Model systems, genetic counselling and prospects for therapy
14: J Antonio Enriquez: Segregation and dynamics of mitochondrial DNA in mammalian cells
15: Nils-Göran Larsson: Mouse models of mitochondrial disease
16: Joanne Poulton: Transmission, genetic counselling and prenatal diagnosis of mitochondrial disease
17: Robert Lightowlers, B Bigger, R W Taylor & Douglas Turnbull: Gene therapy for mitochondrial DNA disorders
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