Cytochrome oxidase deficiency in Wilson's disease: a suggested ceruloplasmin function.
The hypothesis is advanced that ceruloplasmin functions in enzymatic transfer of copper to copper-containing enzymes, such as cytochrome oxidase. To test this hypothesis, leucocytes from Wilson's disease patients, heterozygous carriers, and normal subjects were assayed for cytochrome-oxidase activity. The data reported here show markedly reduced levels of activity in Wilson's disease cases and moderate reductions in heterozygous individuals relative to normal controls. These observations and a close correlation between the level of cytochrome-oxidase activity in the leucocytes and ceruloplasmin in the serum tend to support the hypothesis.
D000293:Adolescent; D000328:Adult; D002570:Ceruloplasmin / Q000502:physiology*; D003300:Copper / Q000378:metabolism; D003576:Electron Transport Complex IV / Q000097:blood / Q000378:metabolism*; D005260:Female; D006527:Hepatolenticular Degeneration / Q000201:enzymology* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D008722:Methods
D003300:Copper; D002570:Ceruloplasmin; D003576:Electron Transport Complex IV