Fleming Matthew R, Brown Maile R, Kronengold Jack, Zhang Yalan, Jenkins David P, Barcia Gulia, Nabbout Rima, Bausch Anne E, Ruth Peter, Lukowski Robert, Navaratnam Dhasakumar S, Kaczmarek Leonard K
Department of Pharmacology, Yale School of Medicine, New Haven, CT 06520, USA.
Department of Pediatric Neurology, Centre de Reference Epilepsies Rares, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), 75015 Paris, France.
Cell Rep. 2016 Aug 30;16(9):2281-8. doi: 10.1016/j.celrep.2016.07.024. Epub 2016 Aug 18.
Human mutations in the cytoplasmic C-terminal domain of Slack sodium-activated potassium (KNa) channels result in childhood epilepsy with severe intellectual disability. Slack currents can be increased by pharmacological activators or by phosphorylation of a Slack C-terminal residue by protein kinase C. Using an optical biosensor assay, we find that Slack channel stimulation in neurons or transfected cells produces loss of mass near the plasma membrane. Slack mutants associated with intellectual disability fail to trigger any change in mass. The loss of mass results from the dissociation of the protein phosphatase 1 (PP1) targeting protein, Phactr-1, from the channel. Phactr1 dissociation is specific to wild-type Slack channels and is not observed when related potassium channels are stimulated. Our findings suggest that Slack channels are coupled to cytoplasmic signaling pathways and that dysregulation of this coupling may trigger the aberrant intellectual development associated with specific childhood epilepsies.
Slack钠激活钾(KNa)通道胞质C末端结构域的人类突变会导致伴有严重智力残疾的儿童癫痫。Slack电流可通过药理学激活剂或蛋白激酶C对Slack C末端残基的磷酸化作用而增加。使用光学生物传感器检测,我们发现神经元或转染细胞中的Slack通道刺激会导致质膜附近物质的丢失。与智力残疾相关的Slack突变体无法引发物质的任何变化。物质的丢失是由于靶向蛋白Phactr-1与通道解离,导致蛋白磷酸酶1(PP1)所致。Phactr1解离是野生型Slack通道所特有的,在刺激相关钾通道时未观察到这种情况。我们的研究结果表明,Slack通道与胞质信号通路偶联,这种偶联的失调可能会引发与特定儿童癫痫相关的异常智力发育。