Genetics of mitochondrial diseases

Hardcover | December 24, 2003

EditorIan James Holt

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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 untilmutations 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 mitochondrialdiseases 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 neurodegenerativedisease. 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 timeproviding 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 toscientific and medical geneticists, and to registrars who encounter this group of diseases in the clinic.

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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 untilmutations in mitochondrial DNA were found in the ...

Dr Ian Holt, Career Scientist, Medical Reseach Council, MRC-Dunn Human Nutrition Unit, Wellcome Trust, Cambridge, UK

other books by Ian James Holt

Format:HardcoverDimensions:374 pages, 9.45 × 6.5 × 0.97 inPublished:December 24, 2003Publisher:Oxford University PressLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:0198508654

ISBN - 13:9780198508656

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Table of Contents

Section I: Mitochondrial Structure and Function1. Johannes Spelbrink: Replication, repair and recombination of mitochondrial DNA2. Jan-Willem Taanman: Mitochondrial DNA expression3. Carla Koehler: Mitochondrial biogenesis4. Marten Wikstrom: Oxidative phosphorylationSection II: Pathological Mutations of Mitochondrial DNA5. Michael G Hanna: Clinical aspects of mitochondrial encephalomyopathies6. Eric A Schon: Rearrangements of mitochondrial DNA7. Howard Jacobs: Pathological mutations affecting mitochondrial protein synthesis8. Neil Howell: Pathogenic mitochondrial DNA mutations in genes that encode respiratory chain subunitsSection III: Nuclear Genes and Mitochondrial Disease9. Anu Suomalainen-Wartiovaara: Multiple mitochondrial DNA deletions and mitochondrial DNA depletion10. Massimo Zeviani: Nuclear gene mutations in mitochondrial disordersSection IV: Cell function, neurodegenerative disorders and ageing11. Michael P Murphy: The effects of mitochondrial DNA mutations on cell function12. J Mark Cooper: Mitochondrial dysfunction in neurodegenerative disease13. Aubrey de Grey: Mechanisms underlying the age-related accumulation of mutant mitochondrial DNASection V: Model systems, genetic counselling and prospects for therapy14. J Antonio Enriquez: Segregation and dynamics of mitochondrial DNA in mammalian cells15. Nils-Goran Larsson: Mouse models of mitochondrial disease16. Joanne Poulton: Transmission, genetic counselling and prenatal diagnosis of mitochondrial disease17. Robert Lightowlers, B Bigger, R W Taylor and Douglas Turnbull: Gene therapy for mitochondrial DNA disorders