TY - JOUR AU - Czaja, M J AU - Weiner, F R AU - Schwarzenberg, S J AU - Sternlieb, I AU - Scheinberg, I H AU - Van Thiel, D H AU - LaRusso, N F AU - Giambrone, M A AU - Kirschner, R AU - Koschinsky, M L T1 - Molecular studies of ceruloplasmin deficiency in Wilson's disease. PY - 1987/10/01/ AB - 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 less than 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. Images JF - The Journal of Clinical Investigation JA - J Clin Invest SN - 0021-9738 DO - 10.1172/JCI113180 VL - 80 IS - 4 UR - https://doi.org/10.1172/JCI113180 SP - 1200 EP - 1204 PB - The American Society for Clinical Investigation ER -