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Nuclear DNA and Oxidative Phosphorylation

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Oxidative Phosphorylation in Health and Disease

Part of the book series: Medical Intelligence Unit ((MIUN))

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Summary

The ubiquitous nature of mitochondria, the dual genetic foundation of the OXPHOS system in mitochondrial and nuclear genome, and the peculiar rules of mitochondrial genetics all contribute to the extraordinary heterogeneity of clinical disorders associated with defects of oxidative phosphorylation (mitochondrial encephalomyopathies). Here, we review recent findings about nuclear gene defects in OXPHOS enzyme complex deficiency. This information should help in identifying patients with mitochondrial disease and defining a biochemical and molecular basis of the disorder found in each patient. This knowledge is indispensable for accurate genetic counseling and prenatal diagnosis, and is a prerequisite for the development of rational therapies, which are still, at present, woefully inadequate.

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  1. Nijmegen Center for Mitochondrial Disorders Department of Pediatrics, University Medical Center, Nijmegen, The Netherlands

    Lambert P. van den Heuvel & Jan A. M. Smeitink M.D., Ph.D.

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  1. Lambert P. van den Heuvel
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  2. Jan A. M. Smeitink M.D., Ph.D.
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van den Heuvel, L.P., Smeitink, J.A.M. (2004). Nuclear DNA and Oxidative Phosphorylation. In: Oxidative Phosphorylation in Health and Disease. Medical Intelligence Unit. Springer, Boston, MA. https://doi.org/10.1007/0-387-26992-4_7

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  • DOI: https://doi.org/10.1007/0-387-26992-4_7

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-0-306-48232-8

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