Activating Mutations in the ABCC8 Gene in Neonatal Diabetes Mellitus

In this study, mutations in the gene encoding the sulfonylurea receptor, a component of the beta-cell ATP-sensitive potassium channel, are described in infants with neonatal diabetes. Some of these infants were successfully weaned from insulin by treatment with sulfonylureas. Mutations in the gene encoding the sulfonylurea receptor are described in infants with neonatal diabetes. Some of these infants were successfully weaned from insulin by treatment with sulfonylureas. Neonatal diabetes is a form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first months of life. Permanent neonatal diabetes requires lifelong therapy; transient neonatal diabetes remits early, with a possible relapse during adolescence. More than half of cases of transient neonatal diabetes are associated with abnormalities of an imprinted region on chromosome 6q24. 1 , 2 Some cases of permanent neonatal diabetes and rare cases of transient neonatal diabetes are caused by mutations in the KCNJ11 gene encoding the inwardly rectifying potassium-channel subunit (Kir6.2) of the ATP-sensitive potassium (K ATP ) channel expressed at the surface of . . .