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＜departmental bulletin paper＞
Current concept, pathophysiology and diversity of K-ATP channelopathies
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| Abstract | Patch-clamp recording of ion channels was first reported in 1978 and was an epoch-making electrophysiological technique that enabled ionic current recording of single channels in cellular membrane. K-...ATP channel is assembled by the pore-forming inwardly rectifying potassium channel subunit (Kir6.x) and the regulatory subunit containing sulfonylurea receptor (SURx) that is one of the adenosine triphosphate (ATP)-binding cassette subfamily C (ABCC) members. This unique channel is a heteromultimer composed of Kir6.2/Kir6.1 and SUR2A/SUR1 isoforms in a 4:4 stoichiometry and is distributed widely in metabolically active organs of human body such as pancreas, cardiovascular system, central nervous system and so on. Therefore, K-ATP channelopathy shows wide spectrum of common diseases ranging from abnormalities in glucose metabolism (diabetes mellitus and hyperinsulinemia), cardiac diseases (congenital anomaly, arrhythmia and angina) to epilepsy depending on the phenotypes of mutations. This review focuses on many aspects of K-ATP channelopathy based on the mutations of these subunits of poreforming channel subunits (Kir6.2/Kir6.1) and sulfonylurea receptors (SUR2A/SUR1) encoded by KCNJ11/KCNJ8 and ABCC9/ABCC8, respectively. Gain of K-ATP channel functions is based on the low affinity of SUR to intracellular ATP concentration leading to the impaired K-ATP channel closure and augmented outward K-ATP channel current, whereas loss of K-ATP channel functions is derived from impaired channel protein synthesis, subunit assembly and trafficking. K-ATP channelopathy includes metabolic, cardiovascular and central nervous system disorders. Thus, KATP channelopathy is not rare, and functional significance of K-ATP channel is also experienced in our infirmary as common diseases such as migraine and bronchial hyperreactivityshow more |
| Table of Contents | はじめに K-ATP チャネロパチーの概念 糖代謝に関する疾患 心血管系疾患 神経疾患 まとめ |
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| Created Date | 2022.04.04 |
| Modified Date | 2022.04.05 |