Molecular studies of ceruloplasmin deficiency in Wilson's disease

M. J. Czaja, F. R. Weiner, S. J. Schwarzenberg, I. Sternlieb, I. H. Scheinberg, D. H. Van Thiel, N. F. LaRusso, M. A. Giambrone, R. Kirschner, M. L. Koschinsky, R. T A MacGillivray, M. A. Zern

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Abstract

Deficiency of serum ceruloplasmin is a characteristic biochemical abnormality of Wilson's disease, although the mechanism of this finding is unknown. Ceruloplasmin messenger RNA (mRNA) levels were therefore examined in five patients with Wilson's disease and five controls with other types of hepatic disease. Northern and dot blot hybridizations showed that detectable ceruloplasmin mRNA was present in all of the patients with Wilson's disease, including one patient with no detectable serum ceruloplasmin. However, the ceruloplasmin mRNA levels in the Wilson's disease patients were only 33% that of controls (P<0.001). In contrast, albumin mRNA levels in the Wilson's disease patients averaged 161% that of controls. In an attempt to better delineate the level of gene expression responsible for this decrease in ceruloplasmin mRNA, the nuclear run-on assay was used to analyze transcriptional rates. The amount of ceruloplasmin gene transcription in four Wilson's patients was decreased to 44% that of three controls. These results indicate that the diminished serum ceruloplasmin levels in patients with Wilson's disease are due at least in part to a decrease in ceruloplasmin gene transcription.

Original languageEnglish (US)
Pages (from-to)1200-1204
Number of pages5
JournalJournal of Clinical Investigation
Volume80
Issue number4
StatePublished - 1987

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Hepatolenticular Degeneration
Ceruloplasmin
Messenger RNA
Serum
Familial apoceruloplasmin deficiency
Northern Blotting
Genes
Albumins
Gene Expression
Liver

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Czaja, M. J., Weiner, F. R., Schwarzenberg, S. J., Sternlieb, I., Scheinberg, I. H., Van Thiel, D. H., ... Zern, M. A. (1987). Molecular studies of ceruloplasmin deficiency in Wilson's disease. Journal of Clinical Investigation, 80(4), 1200-1204.

Molecular studies of ceruloplasmin deficiency in Wilson's disease. / Czaja, M. J.; Weiner, F. R.; Schwarzenberg, S. J.; Sternlieb, I.; Scheinberg, I. H.; Van Thiel, D. H.; LaRusso, N. F.; Giambrone, M. A.; Kirschner, R.; Koschinsky, M. L.; MacGillivray, R. T A; Zern, M. A.

In: Journal of Clinical Investigation, Vol. 80, No. 4, 1987, p. 1200-1204.

Research output: Contribution to journalArticle

Czaja, MJ, Weiner, FR, Schwarzenberg, SJ, Sternlieb, I, Scheinberg, IH, Van Thiel, DH, LaRusso, NF, Giambrone, MA, Kirschner, R, Koschinsky, ML, MacGillivray, RTA & Zern, MA 1987, 'Molecular studies of ceruloplasmin deficiency in Wilson's disease', Journal of Clinical Investigation, vol. 80, no. 4, pp. 1200-1204.
Czaja MJ, Weiner FR, Schwarzenberg SJ, Sternlieb I, Scheinberg IH, Van Thiel DH et al. Molecular studies of ceruloplasmin deficiency in Wilson's disease. Journal of Clinical Investigation. 1987;80(4):1200-1204.
Czaja, M. J. ; Weiner, F. R. ; Schwarzenberg, S. J. ; Sternlieb, I. ; Scheinberg, I. H. ; Van Thiel, D. H. ; LaRusso, N. F. ; Giambrone, M. A. ; Kirschner, R. ; Koschinsky, M. L. ; MacGillivray, R. T A ; Zern, M. A. / Molecular studies of ceruloplasmin deficiency in Wilson's disease. In: Journal of Clinical Investigation. 1987 ; Vol. 80, No. 4. pp. 1200-1204.
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AU - Zern, M. A.

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