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Mol Genet Metab. 2003 Sep-Oct;80(1-2):11-26.

The contribution of mitochondria to common disorders.

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  • 1Department of Pediatrics, Division of Medical Genetics, Stanford University, 300 Pasteur Drive, H-315, Stanford, CA 94305-5208, USA.


Mitochondrial dysfunction secondary to mitochondrial and nuclear DNA mutations has been associated with energy deficiency in multiple organ systems and a variety of severe, often fatal, clinical syndromes. Although the production of energy is indeed the primary function of mitochondria, attention has also been directed toward their role producing reactive oxygen and nitrogen species and the subsequent widespread deleterious effects of these intermediates. The generation of toxic reactive intermediates has been implicated in a number of relatively common disorders, including neurodegenerative diseases, diabetes, and cancer. Understanding the role mitochondrial dysfunction plays in the pathogenesis of common disorders has provided unique insights into a number of diseases and offers hope for potential new therapies.

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