Abstract
The wet weight, copper content, mitochondrial electron-transfer complexes and 2', 3'-cyclic nuculeotide 3'-phosphohydrolase (CNPase) were measured in various organs including brain, liver, kidney, and heart in macular mutant mice which ara considered to be an appropriate model for human Menkes kinky hair disease (MKHD).
Copper contents were decreased markedly in liver, brain, and heart. However a significant increase was noted in kidney, suggesting a disproportionate distribution of copper contents in each organ in this mutant mouse. Regarding mitochondrial electron-transfer complexes, only cytochrome c oxidase, a copper dependent enzyme, was found to be decreased in heart and brain. This alteration in the brain was already demonstrated at 2 days. CNPase was not decreased in its activity at 7 days, but decreased at 14 days, supporting progressive demyelination. These results suggested that this mutant mouse would be a useful animal model for clarifing the pathogenesis in human MKHD.
