Genetics of Mitochondrial Diseases

Genetics of Mitochondrial Diseases

by Ian James Holt, Ian Holt
Pub. Date:
Oxford University Press, USA

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Genetics of Mitochondrial Diseases

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 disorders. This book will also appeal to scientific and medical geneticists, and to registrars who encounter this group of diseases in the clinic.

Product Details

ISBN-13: 9780198508656
Publisher: Oxford University Press, USA
Publication date: 08/21/2003
Series: Oxford Monographs on Medical Genetics Series , #47
Pages: 376
Product dimensions: 9.50(w) x 6.50(h) x 1.00(d)

Table of Contents

Section I: Mitochondrial Structure and Function
1. Replication, repair and recombination of mitochondrial DNA, Johannes Spelbrink
2. Mitochondrial DNA Expression, Jan-Willem Taanman
3. Mitochondrial Biogenesis, Carla Koehler
4. Oxidative Phosphorylation, Marten Wikstrom
Section II: Pathological Mutations of Mitochondrial DNA
5. Clinical Aspects of Mitochondrial Encephalomyopathies, Michael G Hanna
6. Rearrangements of Mitochondrial DNA, Eric A Schon
7. Pathological Mutations Affecting Mitochondrial Protein Synthesis, Howard Jacobs
8. Pathogenic mtDNA Mutations in Genes that Encode Respiratory Chain Subunits, Neil Howell
Section III: Nuclear Genes and Mitochondrial Disease
9. Multiple Mitochondrial DNA Deletions and Mitochondrial DNA depletion, Anu Suomalainen-Wartiovaara
10. Nuclear Gene Mutations in Mitochondrial Disorders, Massimo Zeviani
Section IV: Cell Function, Neurodegenerative Disorders and Ageing
11. The Effects of Mitochondrial DNA Mutations on Cell Function, Michael P Murphy
12. Mitochondrial Dysfunction in Neurodegenerative Disease, J Mark Cooper
13. Mechanisms underlying the age-related accumulation of mutant mitochondrial DNA, Aubrey de Grey
Section V: Model systems, Genetic Counseling and Prospects for Therapy
14. Segregation and Dynamics of Mitochondrial DNA in Mammalian Cells, J Antonio Enriquez
15. Mouse Models of Mitochondrial Disease, Nils-Göran Larsson
16. Transmission, Genetic Counselling and Prenatal Diagnosis of Mitochondrial Disease, Joanne Poulton
17. Therapy for Mitochondrial DNA Disorders, Robert Lightowlers, B Bigger, R W Taylor & Douglas Turnbull

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