Salt wasting and deafness resulting from mutations in two chloride channels
Salt wasting and deafness resulting from mutations in two chloride channels
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DOI：
10.1056/nejmoa032843
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发表时间：
2004-03-25
影响因子：
158.5
通讯作者：
Waldegger, S
中科院分区：
文献类型：
--
作者：
Schlingmann, KP;Konrad, M;Waldegger, S
编码氯转运蛋白的基因突变会导致巴特综合征。在BSND（barttin的编码基因，一种控制两种不同的氯离子转运蛋白膜插入的蛋白质）突变的人群中观察到了与盐耗和耳聋相关的产前形式。这篇报道描述了一个患有该综合征但BSND基因正常的孩子。这个孩子在编码氯离子转运蛋白ClC-Ka和ClC-Kb的两个基因中都有突变。这些数据提供了强有力的证据表明，barttin调节ClC型氯离子通道，从而为肾脏盐处理提供了新的见解。
Mutations in genes encoding chloride transporters cause Bartter's syndrome. An antenatal form associated with salt wasting and deafness has been observed in persons with mutations inBSND,the gene encoding barttin, a protein controlling the membrane insertion of two distinct chloride transporters. This report describes a child with the syndrome yet a normalBSNDgene. The child had mutations in each of two genes encoding the chloride transporters ClC-Ka and ClC-Kb. The data provide strong evidence that barttin regulates ClC-type chloride channels and thus provide new insight into renal salt handling.