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K(ATP) channel-associated neonatal diabetes
Wednesday 27 January 2010
ATP-sensitive potassium (K(ATP)) channels play a key role in glucose-dependent insulin secretion in pancreatic beta-cells.
Activating mutations in beta-cell K(ATP) channels were found to be an important cause of neonatal diabetes.
In some patients, these mutations may also affect K(ATP) channel function in muscles, nerves and brain which can result in a severe disease termed DEND syndrome (Developmental delay, Epilepsy and Neonatal Diabetes).
Mutations in the pore-forming K(ATP) channel subunit (Kir6.2) can cause neonatal diabetes.
See also
neonatal diabetes
References
The K(ATP) channel and neonatal diabetes. Shimomura K. Endocr J. 2009 Apr;56(2):165-75. PMID: 18566517