Abstract
Although most patients with Wilson's disease have low levels of serum ceruloplasmin, an occasional patient presents with a normal level. This variation might be due to differences in the structure of ceruloplasmin. To investigate this possibility, physico-chemical properties of ceruloplasmin from a Wilson's disease patient with normal levels of ceruloplasmin, from a second, unrelated, patient with low levels and from normal subjects were compared.
Highly purified ceruloplasmin from the patient with normal levels was chromatographed on hydroxylapatite. The major component obtained had the same electrophoretic mobility (at pH 5.6, 6.4, 8.9), tryptic peptide map, oxidase activity, copper, amino acid and sugar composition as the major component from normal subjects. The minor hydroxylapatite component from the patient had the same electrophoretic mobility (at pH 5.6), tryptic peptide map and oxidase activity as the minor component from normal subjects. The major and minor ceruloplasmin components were found to differ from each other by only one peptide spot. Ceruloplasmin from the Wilson's disease patient with a low serum ceruloplasmin concentration had the same chromatographic and electrophoretic characteristics as normal ceruloplasmin. Thus it appears that ceruloplasmin in Wilson's disease is structurally normal.
Penicillamine administered to the patient with normal ceruloplasmin concentration caused an increased excretion of copper. Concommitantly, ceruloplasmin activity became undetectable in his plasma and reappeared only after the drug was discontinued. This finding suggests that in Wilson's disease, the sensitivity of the ceruloplasmin synthesizing system to copper may be diminished. (SPR)
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Holtzman, N., Naughton, M. & Cooke, R. 93 Physicochemical Properties of Ceruloplasmin from Normal and Wilson's Disease Subjects. Pediatr Res 1, 224 (1967). https://doi.org/10.1203/00006450-196705000-00099
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DOI: https://doi.org/10.1203/00006450-196705000-00099