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Mitochondrial Disease in Superoxide Dismutase 2 Mutant Mice

Published

Author(s)

S Melov, P Coskun, M Patel, R Tuinstra, B Cottrell, A S. Jun, T H. Zastawny, M. Dizdaroglu, S I. Goodman, T Huang, H Miziorko, C J. Epstein, D C. Wallace

Abstract

Oxidative stress has been implicated in many diseases. The chief source of reactive oxygen species (ROS) within the cell is the mitochondrion. We have characterized the biochemical and metabolic effects of inactivation of the mouse gene for the mitochondrial superoxide dismutase (Sod2tm1Cje -/-). The Sod2tm1Cje mutant mice exhibit a marked inhibition of the respiratory chain enzymes NADH-dehydrogenase (complex I) and succinate dehydrogenase (complex II), inactivation of the tricarboxylic acid cycle enzyme aconitase, and the development of a urine organic aciduria in conjunction with a partial defect in 3-hydroxy-3-methylglutaryl-CoA lyase (HMG-CoA lyase), and the accumulation of oxidative DNA damage. Hence, our results indicate that the increase in mitochondrial ROS can result in biochemical aberrations with features reminiscent of mitochondrial myopathy, Freidrichs ataxia, and HMG-CoA lyase deficiency.
Citation
Proceedings of the National Academy of Sciences of the United States of America
Volume
96

Keywords

5-hydroxcytosine, DNA damage, mitochondrial disease, reactive oxygen species, superoxide dismutase

Citation

Melov, S. , Coskun, P. , Patel, M. , Tuinstra, R. , Cottrell, B. , Jun, A. , Zastawny, T. , Dizdaroglu, M. , Goodman, S. , Huang, T. , Miziorko, H. , Epstein, C. and Wallace, D. (1999), Mitochondrial Disease in Superoxide Dismutase 2 Mutant Mice, Proceedings of the National Academy of Sciences of the United States of America (Accessed May 25, 2024)

Issues

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Created February 1, 1999, Updated February 17, 2017