K ATP Channel Mutations and Neonatal Diabetes

Since the discovery of the K channel in 1983, numerous studies have revealed its physiological functions. The K channel is expressed in various organs, including the pancreas, brain and skeletal muscles. It functions as a "metabolic sensor" that converts the metabolic status to electrical...

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Published in:Internal medicine (Tokyo, 1992) 1992), 2017-09, Vol.56 (18), p.2387
Main Authors: Shimomura, Kenju, Maejima, Yuko
Format: Article
Language:English
Subjects:
Diabetes Mellitus - genetics
Diabetes Mellitus - physiopathology
Humans
Infant, Newborn
Insulin - metabolism
Insulin Secretion
Insulin-Secreting Cells - metabolism
KATP Channels - genetics
Mutation
Sulfonylurea Receptors - genetics
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Maejima, Yuko
description Since the discovery of the K channel in 1983, numerous studies have revealed its physiological functions. The K channel is expressed in various organs, including the pancreas, brain and skeletal muscles. It functions as a "metabolic sensor" that converts the metabolic status to electrical activity. In pancreatic beta-cells, the K channel regulates the secretion of insulin by sensing a change in the blood glucose level and thus maintains glucose homeostasis. In 2004, heterozygous gain-of-function mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the K channel, were found to cause neonatal diabetes. In some mutations, diabetes is accompanied by severe neurological symptoms [developmental delay, epilepsy, neonatal diabetes (DEND) syndrome]. This review focuses on mutations of Kir6.2, the pore-forming subunit and sulfonylurea receptor (SUR) 1, the regulatory subunit of the K channel, which cause neonatal diabetes/DEND syndrome and also discusses the findings of the pathological mechanisms that are associated with neonatal diabetes, and its neurological features.
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subjects Diabetes Mellitus - genetics
Diabetes Mellitus - physiopathology
Humans
Infant, Newborn
Insulin - metabolism
Insulin Secretion
Insulin-Secreting Cells - metabolism
KATP Channels - genetics
Mutation
Sulfonylurea Receptors - genetics
title K ATP Channel Mutations and Neonatal Diabetes
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