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目前对新生儿疾病中 KATP 通道的认识:重点关注胰岛素分泌紊乱。

Current understanding of K ATP channels in neonatal diseases: focus on insulin secretion disorders.

机构信息

Department of Physiology, University of Toronto, 1 King's College Circle, Toronto, Ontario, Canada.

出版信息

Acta Pharmacol Sin. 2011 Jun;32(6):765-80. doi: 10.1038/aps.2011.57. Epub 2011 May 23.

DOI:10.1038/aps.2011.57
PMID:21602835
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4009965/
Abstract

ATP-sensitive potassium (K(ATP)) channels are cell metabolic sensors that couple cell metabolic status to electric activity, thus regulating many cellular functions. In pancreatic beta cells, K(ATP) channels modulate insulin secretion in response to fluctuations in plasma glucose level, and play an important role in glucose homeostasis. Recent studies show that gain-of-function and loss-of-function mutations in K(ATP) channel subunits cause neonatal diabetes mellitus and congenital hyperinsulinism respectively. These findings lead to significant changes in the diagnosis and treatment for neonatal insulin secretion disorders. This review describes the physiological and pathophysiological functions of K(ATP) channels in glucose homeostasis, their specific roles in neonatal diabetes mellitus and congenital hyperinsulinism, as well as future perspectives of K(ATP) channels in neonatal diseases.

摘要

三磷酸腺苷敏感性钾(K(ATP))通道是细胞代谢传感器,可将细胞代谢状态与电活性偶联,从而调节许多细胞功能。在胰腺β细胞中,K(ATP)通道可响应血浆葡萄糖水平的波动来调节胰岛素分泌,在葡萄糖稳态中发挥重要作用。最近的研究表明,K(ATP)通道亚基的功能获得性和功能丧失性突变分别导致新生儿糖尿病和先天性高胰岛素血症。这些发现导致新生儿胰岛素分泌障碍的诊断和治疗发生重大变化。本综述描述了 K(ATP)通道在葡萄糖稳态中的生理和病理生理学功能,其在新生儿糖尿病和先天性高胰岛素血症中的特定作用,以及 K(ATP)通道在新生儿疾病中的未来展望。

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本文引用的文献

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KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients.KCNJ11 激活突变导致塞浦路斯患者的暂时性和永久性新生儿糖尿病。
Pediatr Diabetes. 2011 Mar;12(2):133-7. doi: 10.1111/j.1399-5448.2010.00743.x.
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Novel glucokinase mutations in patients with monogenic diabetes - clinical outline of GCK-MD and potential for founder effect in Slavic population.新发现的单基因糖尿病患者中的葡萄糖激酶基因突变 - GCK-MD 的临床概况及在斯拉夫人群中可能存在的 founder 效应。
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Syntaxin 1A regulates surface expression of beta-cell ATP-sensitive potassium channels.Syntaxin 1A 调节β细胞 ATP 敏感性钾通道的表面表达。
Am J Physiol Cell Physiol. 2011 Mar;300(3):C506-16. doi: 10.1152/ajpcell.00429.2010. Epub 2011 Jan 5.
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Rare forms of congenital hyperinsulinism.先天性高胰岛素血症的罕见类型。
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ATP modulates interaction of syntaxin-1A with sulfonylurea receptor 1 to regulate pancreatic beta-cell KATP channels.三磷酸腺苷调节突触融合蛋白 1A 与磺酰脲受体 1 的相互作用,从而调节胰腺β细胞 KATP 通道。
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The hyperinsulinism/hyperammonemia syndrome.高胰岛素血症/高血氨综合征。
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Mutations in pancreatic ß-cell Glucokinase as a cause of hyperinsulinaemic hypoglycaemia and neonatal diabetes mellitus.胰腺β细胞葡萄糖激酶基因突变致高胰岛素血症低血糖和新生儿糖尿病。
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Muscle dysfunction caused by a KATP channel mutation in neonatal diabetes is neuronal in origin.由新生儿糖尿病中 KATP 通道突变引起的肌肉功能障碍起源于神经元。
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Early Hum Dev. 2010 May;86(5):287-94. doi: 10.1016/j.earlhumdev.2010.05.003. Epub 2010 Jun 13.