Renal Phenotype in Mice Lacking the Kir5.1 (Kcnj16) K Channel Subunit
Renal phenotype in mice lacking the Kir5.1 (Kcnj16) K+ channel subunit contrasts with that observed in SeSAME/EAST syndrome Marc Paulaisa,b,1, May Bloch-Faurea,b, Nicolas Picarda,b, Thibaut Jacquesb,c, Suresh Krishna Ramakrishnana,b, Mathilde Kecka,b, Fabien Soheta,b, Dominique Eladaria,b,c,d, Pascal Houilliera,b,c,d, Stéphane Lourdela,b, Jacques Teulona,b, and Stephen J. Tuckere aUniversité Pierre et Marie Curie Paris 6, Université Paris 5, and Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche en Santé 872, 75006 Paris, France; bCentre National de la Recherche Scientifique, Équipes de Recherche Labellisées 7226, Genomics Physiology, and Renal Physiopathology Laboratory, Centre de Recherche des Cordeliers, 75270 Paris 6, France; cFaculty of Medicine, Université Paris–Descartes, 75006 Paris, France; dAssistance Publique–Hôpitaux de Paris, Hôpital Européen Georges Pompidou, 75015 Paris, France; and eClarendon Laboratory and Department of Physics, University of Oxford, Oxford OX1 3PU, United Kingdom Edited by Maurice B. Burg, National Heart, Lung, and Blood Institute, Bethesda, MD, and approved May 9, 2011 (received for review January 31, 2011) The heteromeric inwardly rectifying Kir4.1/Kir5.1 K+ channel underlies encodes the Kir4.1 subunit, underlie SeSAME/EAST syndrome, the basolateral K+ conductance in the distal nephron and is extremely a rare disorder in which patients experience neurological and sensitive to inhibition by intracellular pH. The functional importance renal symptoms (11, 12). In the kidney, it is thought that these of Kir4.1/Kir5.1 in renal ion transport has recently been highlighted by loss-of-function mutations in Kir4.1 impair the function of het- mutations in the human Kir4.1 gene (KCNJ10) that result in seizures, eromeric Kir4.1/Kir5.1 channels (13, 14), thereby dramatically sensorineural deafness, ataxia, mental retardation, and electrolyte impairing salt reuptake from the DCT, and increasing down- imbalance (SeSAME)/epilepsy, ataxia, sensorineural deafness, and re- stream K+ and H+ secretion.
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