Genetics of Mitochondrial Diseases: (47 Oxford Monographs on Medical Genetics)

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.

Table of Contents:
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

Review :
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