The ATP-sensitive K+ channel (KATP) is formed by the association of four inwardly rectifying K+ channel (Kir6.x) pore subunits with four sulphonylurea receptor (SUR) regulatory subunits. Kir6.x or SUR mutations result in KATP channelopathies, which reflect the physiological roles of these channels, including but not limited to insulin secretion, cardiac protection, and blood flow regulation. In this issue of the JCI, McClenaghan et al. explored one of the channelopathies, namely Cantu syndrome (CS), which is a result of one kind of KATP channel mutation. Using a knockin mouse model, the authors demonstrated that gain-of-function KATP mutations in vascular smooth muscle resulted in cardiac remodeling. Moreover, they were able to reverse the cardiovascular phenotypes by administering the KATP channel blocker glibenclamide. These results exemplify how genetic mutations can have an impact on developmental trajectories, and provide a therapeutic approach to mitigate cardiac hypertrophy in cases of CS.

中文翻译：

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KATP通道生物学和遗传疾病的惊人复杂性。

ATP敏感的K +通道（KATP）通过四个向内整流的K +通道（Kir6.x）孔亚基与四个磺酰脲受体（SUR）调节亚基的结合形成。Kir6.x或SUR突变会导致KATP通道病变，这反映了这些通道的生理作用，包括但不限于胰岛素分泌，心脏保护和血流调节。在JCI的这一期中，McClenaghan等人。探索了一种通道病，即Cantu综合征（CS），这是一种KATP通道突变的结果。使用敲除小鼠模型，作者证明了血管平滑肌中功能增强的KATP突变导致心脏重塑。此外，他们通过施用KATP通道阻滞剂格列本脲可以逆转心血管表型。