Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: Is there a potential effect of copper?
Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: Is there a potential effect of copper?
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DOI：
10.1023/b:boli.0000016614.47380.2f
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发表时间：
2004-01-01
影响因子：
4.2
通讯作者：
Jaksch, M
中科院分区：
文献类型：
--
作者：
Freisinger, P;Horvath, R;Jaksch, M
SCO2是一种与铜运输到呼吸链末端酶细胞色素c氧化酶有关的蛋白质，它的突变会导致婴儿肥厚型心脑肌病。我们最近发现，在体外，在SCO2缺乏的成肌细胞中添加组氨酸铜(CuHis)可以挽救COX活性。在这里，我们报告一个患者的SCO2突变和严重肥厚型心肌病的解决。权衡证据，该患者心功能改善的最有可能的解释是皮下应用铜-组氨酸。
Mutations in Sco2, a protein involved in copper trafficking to the terminal enzyme of the respiratory chain, cytochrome c oxidase, results in infantile hypertrophic cardioencephalomyopathy. We have recently shown that copper-histidine (Cu-his) supplementation of Sco2-deficient myoblasts rescues COX activity in vitro. Here, we report a patient with SCO2 mutations and with resolution of severe hypertrophic cardiomyopathy. Weighing up the evidence, the most likely explanation for the improved cardiac function in this patient was the subcutaneous application of Cu-his.