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Sörmann, Janina; Schewe, Marcus; Proks, Peter; Jouen-Tachoire, Thibault; Rao, Shanlin; Riel, Elena B; Agre, Katherine E; Begtrup, Amber; Dean, John; Descartes, Maria; Fischer, Jan; Gardham, Alice; Lahner, Carrie; Mark, Paul R; Muppidi, Srikanth; Pichurin, Pavel N; Porrmann, Joseph; Schallner, Jens; Smith, Kirstin; Straub, Volker; Vasudevan, Pradeep; Willaert, Rebecca; Carpenter, Elisabeth P; Rödström, Karin E J; Hahn, Michael G; Müller, Thomas; Baukrowitz, Thomas; Hurles, Matthew E; Wright, Caroline F; Tucker, Stephen J
Nature genetics, 10/2022, Letnik: 54, Številka: 10Journal Article
Sleep apnea is a common disorder that represents a global public health burden. KCNK3 encodes TASK-1, a K channel implicated in the control of breathing, but its link with sleep apnea remains poorly understood. Here we describe a new developmental disorder with associated sleep apnea (developmental delay with sleep apnea, or DDSA) caused by rare de novo gain-of-function mutations in KCNK3. The mutations cluster around the 'X-gate', a gating motif that controls channel opening, and produce overactive channels that no longer respond to inhibition by G-protein-coupled receptor pathways. However, despite their defective X-gating, these mutant channels can still be inhibited by a range of known TASK channel inhibitors. These results not only highlight an important new role for TASK-1 K channels and their link with sleep apnea but also identify possible therapeutic strategies.
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