Defective processing and trafficking of water channels in nephrogenic diabetes insipidus.

E J Kamsteeg, P M Deen, C H van Os
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引用次数: 22

Abstract

Nephrogenic diabetes insipidus (NDI) is a disease characterized by the inability of the kidney to concentrate urine upon stimulation with vasopressin. Mutations in the gene for aquaporin-2 (AQP2) are the cause of the autosomal recessive and autosomal dominant forms of NDI. Mutant AQP2 proteins, found in autosomal recessive NDI, were shown to be misfolded and retarded in the endoplasmic reticulum. One mutant protein leading to autosomal dominant NDI, E258K, has been analyzed in detail. It was shown that this mutant was not retarded in the endoplasmic reticulum but mainly retained in the Golgi network. Furthermore, this particular mutant was able to form heterotetramers with wild-type AQP2, in contrast to mutants found in autosomal recessive NDI. The subsequent misrouting of complexes containing wild-type and mutant AQP2 proteins explains dominant NDI.

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肾源性尿崩症的水渠加工和运输缺陷。
肾源性尿崩症(NDI)是一种以肾脏在加压素刺激下不能浓缩尿液为特征的疾病。水通道蛋白-2 (AQP2)基因突变是常染色体隐性和常染色体显性NDI的病因。在常染色体隐性NDI中发现的AQP2突变蛋白在内质网中被证明是错误折叠和发育迟缓的。一种导致常染色体显性NDI的突变蛋白E258K已被详细分析。结果表明,该突变体在内质网中并不迟滞,而主要保留在高尔基网中。此外,与常染色体隐性NDI中发现的突变体相比,这种特殊的突变体能够与野生型AQP2形成异源四聚体。随后含有野生型和突变AQP2蛋白的复合物的错误路线解释了显性NDI。
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