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Lecturer: Professor Eric Delpire, Department of Anesthesiology Vanderbilt University Medical Center, USA. "The recent discovery of the Na-K-2Cl cotransporter-1 (NKCC1) as a disease-causing transporter in humans"
07.04.2021 |
| Dato | tir 13 apr |
| Tid | 15:00 — 16:00 |
| Sted | Zoom Meeting ID: 65943221004 |
The tightly coupled movement of Na+, K+, and Cl- across cell membranes is mediated, in part, by Na+-K+-2Cl- cotransport. This mode of transport is mediated by two distinct Na+-K+-2Cl- cotransporters: NKCC1, encoded by SLC12A2 and NKCC2, encoded by SLC12A1. NKCC2 is expressed in the kidney in the thick ascending limb of Henle’s loop where it participates in Na+ reabsorption. Loss-of-function mutations in NKCC2 result in Bartter syndrome, a well-characterized salt wasting disorder. NKCC1 in contrast is found in a variety of tissues and cell types where it participates in cell volume maintenance and regulation of epithelial Cl- secretion, as well as Cl- homeostasis in muscle cells and neurons. Until recently, no disease-causing mutations had been identified in humans. However, this has changed relatively quickly following our report in 2016 of the first case of a 14-year old patient with a multi-system disorder. Several novel mutations found in patients provide interesting clues regarding the biology of NKCC1 and point to new features and structural domains of the protein. In this seminar I will provide an overview of these new findings in relation to NKCC1 structure and function.
Join zoom meeting: https://aarhusuniversity.zoom.us/j/65943221004
Host: Prof. Robert A. Fenton, AU
Søren Brandt Poulsen
Administrative Research Theme Coordinator
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