Diseases Caused by Mutations in Nuclear DNA

Mutations in Nuclear Genes That Affect Mitochondrial Respiratory Enzymes 

In 1995, Bourgeron et al. (B7) first reported that mutation in a nuclear gene coding for succinate dehydrogenase may result in mitochondrial disease. In 1998, 

Nuclear Gene Mutations Involved in the Maintenance of mtDNA Copy Number or mtDNA Integrity 

MnSOD-deficient mice Increase in ROS level Dilated cardiomyopathy neuronal degeneration of the basal ganglia and brain stem Lll, M9 

Gpxl-deficient mice Increase in ROS level and in lipid peroxidation level in liver decrease in liver mitochondrial respiratory control ratio and power output index Growth retardation E3 

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