The K_ATP Channel and Neonatal Diabetes

抄録

ATP-sensitive potassium (K_ATP) channels play a key role in glucose-dependent insulin secretion in pancreatic β-cells. Recently, activating mutations in β-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). This review focuses on mutations in the pore-forming K_ATP channel subunit (Kir6.2) that cause neonatal diabetes and discusses recent advances in our understanding of clinical features of neonatal diabetes, its underlying molecular mechanisms and their impact on treatment.