【摘要】 在已经建立的肝豆状核变性(HLD)细胞模型基础上,用凝胶层析法和阳极溶出伏安法,研究铜在皮肤成纤维细胞不同蛋白组分中分布。结果:HLD患者细胞中第一洗脱蛋白峰的铜/蛋白质比值大大低于对照,患者过量累积铜主要与小分子蛋白质结合。此法可用于临床对该病的早期诊断。更多还原

【Abstract】 Hepatolenticular degeneration (HLD) is an autosomal recessively inherited disease caused by copper metabolic dysfunction. Its primary genetic defect is still not known. A previous study showed that the average copper content of HLD cells was approximately threefold that of normal cells. Cultured fibroblasts were used as an in vitro model to investigate primary molecular defects. We examined the distribution of protein-bound intracellular copper in proteins of HLD cells. Cell lysates were fractionated by gel fitration. Copper concentration of columnar fractions were determined by anodic stripping voltammetry. Results revealed that the character of copper binding was altered in HLD cells.A decreased ratio of copper to proteins was observed in cytoplasmic proteins having a molecular weight≥30 000. There was more copper specifically bound to lower molecular weight compounds in HLD cells, these results also may serve as a method for early unequivocal diagnosis of this di sorder.更多还原