Requirement of Human Renal Water Channel Aquaporin-2 for Vasopressin-dependent Concentration of Urine

American Association for the Advancement of Science (AAAS) - Tập 264 Số 5155 - Trang 92-95 - 1994
Peter M.T. Deen1, Marian Verdijk2, Nine V.A.M. Knoers2, Bé Wieringa3, L.A.H. Monnens4, C.H. van Os1, Bernard A. van Oost2
1Department of Cell Physiology, University of Nijmegen, 6500 HB Nijmegen, Netherlands.
2Department of Human Genetics, University Hospital Nijmegen, 6500 HB Nijmegen, Netherlands.
3Department of Cellular Biology, University of Nijmegen, 6500 HB Nijmegen, Netherlands.
4Department of Pediatrics, University Hospital Nijmegen, 6500 HB Nijmegen, Netherlands.

Tóm tắt

Concentration of urine in mammals is regulated by the antidiuretic hormone vasopressin. Binding of vasopressin to its V2 receptor leads to the insertion of water channels in apical membranes of principal cells in collecting ducts. In nephrogenic diabetes insipidus (NDI), the kidney fails to concentrate urine in response to vasopressin. A male patient with an autosomal recessive form of NDI was found to be a compound heterozygote for two mutations in the gene encoding aquaporin-2, a water channel. Functional expression studies in Xenopus oocytes revealed that each mutation resulted in nonfunctional water channel proteins. Thus, aquaporin-2 is essential for vasopressin-dependent concentration of urine.

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Tài liệu tham khảo

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American Association for the Advancement of Science (AAAS)

Tập 264 Số 5155

92-95

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