Genetics of Mitochondrial Diseases

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Overview


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.

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Editorial Reviews

Doody's Review Service
Reviewer: Rhona M. Jack, PhD (Children's Hospital and Regional Medical Center)
Description: This is a review of mitochondrial physiology, pathology, and genetics from a clinical perspective.
Purpose: The book endeavors to give the reader a basic understanding of mitochondrial structure and function, mitochondrial DNA replication and expression, and association of disease states with mitochondrial and nuclear DNA mutations.
Audience: The target audience for this book is most likely clinical researchers and physicians involved in mitochondrial research. Physicians seeing patients where mitochondrial disease is suspected, primarily neurologists and medical geneticists, will benefit from this concise review.
Features: The book has appropriate illustrations and diagrams to elucidate pathways or mitochondrial DNA maps. There are a few photographs when indicated to illustrate light and electron microscopic changes in muscle due to mitochondrial myopathy and NMR changes in the brain characteristic of mitochondrial disease. The book includes a glossary, but the level of sophistication of likely readers may make the glossary superfluous. The book is comprehensively referenced to lead the reader directly to original articles.
Assessment: The area of mitochondrial disease is extremely important clinically at this time, since the estimates of patients affected with mitochondrial disease are high. Making sense of aberrant respiratory chain enzymes in a sick patient and differentiating primary from secondary mitochondrial dysfunction only confound clinical diagnosis. Giving families accurate information about recurrence risk is difficult especially without DNA confirmation of disease. This book does an admiral job of addressing those issues, and crystallizing a wealth of information about known mitochondrial diseases. While all answers are not known at this time, the book pulls together as much available information as possible to provide the best recommendations with authority. Authors are internationally recognized experts in their field. If the editor were considering a future edition, I would recommend including testing algorithms for the clinical laboratory work -up of patients suspected of mitochondrial disease. Laboratory testing procedures, interpretation, and pitfalls would be a useful addition, and make the book an even better resource for the practicing clinician.
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Product Details

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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