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Characteristics of Mitochondrial DNA Diseases

  • Chapter
Mitochondrial DNA Mutations in Aging, Disease and Cancer

Abstract

The rapid progress in our understanding of mtDNA-related diseases has opened the way to a genetic classification of mitochondrial diseases, especially those involving oxidative phosphorylation. Although the exact genetic lesion in several mitochondrial disorders has not yet been determined, several groups can now be distinguished. A genetic classification is based on the identification of primary mtDNA mutations (point mutations, single deletions or duplications) and secondary mtDNA alterations (multiple deletions or depletion). Primary nuclear DNA mutations are still poorly understood and to date only one mutation in a nuclear coded gene has been associated with an oxidative phosphorylation defect. Table 9.1 outlines a genetic classification for mitochondrial diseases. Although less understood, mtDNA alterations in aging, carcinogenesis, neurodegenerative diseases, male disease and cancer therapy are of increasing interest and promise to keep this small genome in the spotlight for years to come. These different aspects of mtDNA pathobiology are discussed in detail in the following chapters.

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  1. Carlos T. Moraes
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  1. The Division of Experimental Therapeutics and Radiation Oncology, Johns Hopkins Oncology Center and Department of Environmental Health, Johns Hopkins School of Public Health, 600 N. Wolfe Street, Room 2-121, 21287, Baltimore, Maryland, USA

    Keshav K. Singh Ph.D.

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© 1998 Springer-Verlag Berlin Heidelberg

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Moraes, C.T. (1998). Characteristics of Mitochondrial DNA Diseases. In: Singh, K.K. (eds) Mitochondrial DNA Mutations in Aging, Disease and Cancer. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-12509-0_9

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  • DOI: https://doi.org/10.1007/978-3-662-12509-0_9

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-12511-3

  • Online ISBN: 978-3-662-12509-0

  • eBook Packages: Springer Book Archive

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