Inwardly Rectifying Potassium Channel Kir2.1 and its "Kir-ious" Regulation by Protein Trafficking and Roles in Development and Disease.
Inwardly Rectifying Potassium Channel Kir2.1 and its "Kir-ious" Regulation by Protein Trafficking and Roles in Development and Disease.
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DOI：
10.3389/fcell.2021.796136
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发表时间：
2021
影响因子：
5.5
通讯作者：
O'Donnell AF
中科院分区：
文献类型：
--
作者：
Hager NA;McAtee CK;Lesko MA;O'Donnell AF
钾 (K+) 稳态受到严格调节，以实现最佳的细胞和有机体健康。未能控制钾平衡会导致疾病，包括心律失常和发育障碍。内向整流钾 (Kir) 通道家族有助于细胞维持 K+ 水平。 Kir 通道由 KCNJ 基因编码，由 Kir 亚基四聚体组成，每个亚基包含两个跨膜结构域。组装好的 Kir 通道在单体界面处生成 K+ 离子选择性过滤器，从而允许 K+ 传输。 Kir 通道存在于许多细胞类型中，影响整个生物体的 K+ 稳态，影响肌肉、神经和免疫功能。 Kir2.1 是研究最深入的家族成员之一，在调节心律、肌肉收缩和骨骼发育方面具有明确的作用。由于其广泛的作用，Kir 突变导致疾病（包括心肌病、神经系统和代谢紊乱）也就不足为奇了。 Kir 功能障碍与发育缺陷有关，包括骨骼系统发育不良和小脑异常。 Kir2.1 突变会导致周期性麻痹、心律失常以及与安德森-塔维尔综合征相关的发育缺陷。在这里，我们回顾了 Kir 家族成员 Kir2.1 在维持 K+ 平衡中的作用，特别关注我们对 Kir2.1 通道运输以及在发育和疾病中的新作用的理解。我们提供了重要工作的概要，重点是了解 Kir2.1 的贩运及其在发展中的作用。
Potassium (K+) homeostasis is tightly regulated for optimal cell and organismal health. Failure to control potassium balance results in disease, including cardiac arrythmias and developmental disorders. A family of inwardly rectifying potassium (Kir) channels helps cells maintain K+ levels. Encoded by KCNJ genes, Kir channels are comprised of a tetramer of Kir subunits, each of which contains two-transmembrane domains. The assembled Kir channel generates an ion selectivity filter for K+ at the monomer interface, which allows for K+ transit. Kir channels are found in many cell types and influence K+ homeostasis across the organism, impacting muscle, nerve and immune function. Kir2.1 is one of the best studied family members with well-defined roles in regulating heart rhythm, muscle contraction and bone development. Due to their expansive roles, it is not surprising that Kir mutations lead to disease, including cardiomyopathies, and neurological and metabolic disorders. Kir malfunction is linked to developmental defects, including underdeveloped skeletal systems and cerebellar abnormalities. Mutations in Kir2.1 cause the periodic paralysis, cardiac arrythmia, and developmental deficits associated with Andersen-Tawil Syndrome. Here we review the roles of Kir family member Kir2.1 in maintaining K+ balance with a specific focus on our understanding of Kir2.1 channel trafficking and emerging roles in development and disease. We provide a synopsis of the vital work focused on understanding the trafficking of Kir2.1 and its role in development.
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