Terada K, Schilsky M L, Miura N, Sugiyama T
Department of Biochemistry, Akita University School of Medicine, Japan.
Int J Biochem Cell Biol. 1998 Oct;30(10):1063-7. doi: 10.1016/s1357-2725(98)00073-9.
Wilson's disease is a genetic disorder of copper metabolism characterized by the excessive accumulation of this metal in the liver. The gene for Wilson's disease, designated ATP7B, encodes a copper transporting P-type ATPase expressed predominantly in the liver. Over 60 disease specific mutations of ATP7B have now been reported in patients with Wilson's disease. The gene for ATP7B is approximately 80 kb and contains 21 exons that encode an approximately 7.5 kb transcript. Recent studies that focus on the structure and expression of the ATP7B protein support its role as a copper transporter involved in the intracellular trafficking of copper in hepatocytes. The introduction of functional ATP7B protein by recombinant adenovirus mediated gene delivery will be a potential approach for correcting Wilson's disease.
威尔逊氏病是一种铜代谢的遗传性疾病，其特征是这种金属在肝脏中过度积累。威尔逊氏病的基因，命名为ATP7B，编码一种主要在肝脏中表达的铜转运P型ATP酶。目前已在威尔逊氏病患者中报道了超过60种ATP7B的疾病特异性突变。ATP7B基因约为80 kb，包含21个外显子，编码一个约7.5 kb的转录本。最近专注于ATP7B蛋白结构和表达的研究支持了其作为参与肝细胞内铜转运的铜转运蛋白的作用。通过重组腺病毒介导的基因递送引入功能性ATP7B蛋白将是纠正威尔逊氏病的一种潜在方法。
