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Article: Disease-associated mutations affect intracellular traffic and paracellular [Mg.sup.2+] transport function of Claudin-16.(Research article)(includes statistical table)
- Article from:
- Journal of Clinical Investigation
- Article date:
- April 1, 2006
- Author:
CopyrightCOPYRIGHT 2006 American Society for Clinical Investigation. This material is published under license from the publisher through the Gale Group, Farmington Hills, Michigan. All inquiries regarding rights should be directed to the Gale Group. (Hide copyright information)
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Claudin-16 (Cldn16) is selectively expressed at tight junctions (TJs) of renal epithelial cells of the thick ascending limb of Henle's loop, where it plays a central role in the reabsorption of divalent cations. Over 20 different mutations in the CLDN16 gene have been identified in patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), a disease of excessive renal [Mg.sup.2+] and [Ca.sup.2+] excretion. Here we show that disease-causing mutations can lead to the intracellular retention of Cldn16 or affect its capacity to facilitate paracellular [Mg.sup.2+] transport. Nine of the 21 Cldn16 mutants we characterized were retained in the ...