Genetics of Mitochondrial Diseases

Edited by Ian James Holt

Oxford Monographs on Medical Genetics 47

376 pages | 2pp colour plates, numerous tables and figures | 240x168mm

978-0-19-850865-6 | Hardback | 03 July 2003

Price: £135.00

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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.

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

Genetics of Mitochondrial Diseases

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