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研究肝豆状该变性（HLD）的病理机制。以培养的皮肤成纤维细胞为模型，利用电镜X射线显微分析技术研究HLD不同等位基因组成及不同病程患者溶酶体内外铜、硫分布，并进行定量分析。结果：HLD早期患者细胞中溶酶体外的铜含量高于溶酶体内，而随病程延长，铜逐渐呈现溶酶体内分布的特点，且溶酶体外铜含量和硫含量呈正相关。杂合子和对照组溶酶体内外铜含量无显著差异。结论：溶酶体外存在含硫的铜结合蛋白，它和铜的结合降低了游离铜的毒性。细胞膜的铜转运ATP酶的缺陷可能是导致HLD一系列病理变化的根本原因。
To study the pathological mechanism of hepatic degeneration (HLD). Using cultured skin fibroblasts as a model, the lysosomal distribution of copper and sulfur in patients with different alleles of HLD and in different course of disease were studied by electron microscopy X-ray microscopy and quantitative analysis. Results: The content of lysosomal copper in early HLD cells was higher than that in lysosomes. With the prolongation of duration, copper gradually showed the distribution of lysosome in vivo, and the content of copper in lysosome was positively correlated with the content of sulfur. Heterozygotes and control group lysosomal copper content inside and outside no significant difference. CONCLUSIONS: Sulfur-containing copper-binding proteins exist in lysosomes in vitro and their binding to copper reduces the toxicity of free copper. Defects in the copper transporter ATPase of the cell membrane may be the underlying cause of a series of pathological changes in HLD.