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通过确定肝豆状核变性培养细胞内铜在各亚细胞组分以及胞浆内不同分子量蛋白上的分布，以探讨本病的发病机理。方法测定肝豆状核变性患者、杂合子及对照组离体培养皮肤成纤维细胞的细胞浆、线粒体、溶酶体、微粒体和细胞浆的铜分布比例，并分析胞浆经ＳｅｐｈａｄｅｘＧ－７５凝胶层析后铜在不同分子量蛋白上的分布特点。结果２例患者分别有胞浆铜和溶酶体铜比例增高；患者胞浆内金属硫蛋白的含铜量明显高于对照组和杂合子。结论肝豆状核变性培养细胞内的铜异常沉积与金属硫蛋白密切相关，后者可能致本病的基本病理生理异常。
The distribution of copper in the subcellular fractions and different molecular weight proteins in the cytoplasm was determined by the determination of hepatolenticular degeneration to explore the pathogenesis of this disease. Methods The proportion of copper in cytoplasm, mitochondria, lysosome, microsome and cytoplasm of in vitro cultured skin fibroblasts from patients with hepatolenticular degeneration, heterozygotes and control group were determined. The cytosolic fraction was analyzed by Sephadex G-75 Distribution characteristics of copper on different molecular weight proteins after gel chromatography. Results The proportion of cytoplasmic copper and lysosomal copper in two patients increased respectively. The content of copper in cytoplasm metallothionein was significantly higher than that in control group and heterozygote. Conclusion The abnormal deposition of copper in cultured hepatolenticular degeneration cells is closely related to metallothionein, which may lead to the basic pathophysiological abnormalities of this disease.