[A study on the pathogenesis of hepatolenticular degeneration using an in vitro model].

Hepatolenticular degeneration (HLD) as an autosomal recessively inherited disease has been known to be associated with by copper metabolic dysfunction. Its primary genetic defect is still not clear. The average copper content of HLD cells was found to be approximately threefold as much as that of normal cells in the authors previous studies. Cultured fibroblasts were used to serve as an in vitro model to investigate the primary molecular defects. The distribution of intracellular copper in the proteins of HLD cells were examined. The cell lysates were fractionated by gel chromatographic filtration. The copper concentration of the column fractions revealed that the copper binding character was altered in HLD cells. A decreased ratio of copper to proteins was observed in cytoplasmic proteins having a molecular weight greater than 300,000. There was more copper specifically bound to the lower molecular weight compounds in the HLD cells. The results of this laboratory technology suggested that this might serve as a method for establishing the early diagnosis of this disease.