Congenital Hyperinsulinism Associated ABCC8 Mutations That Cause Defective Trafficking of ATP-Sensitive K+ Channels: Identification and Rescue
نویسندگان
چکیده
منابع مشابه
Pharmacological rescue of trafficking-impaired ATP-sensitive potassium channels
ATP-sensitive potassium (KATP) channels link cell metabolism to membrane excitability and are involved in a wide range of physiological processes including hormone secretion, control of vascular tone, and protection of cardiac and neuronal cells against ischemic injuries. In pancreatic β-cells, KATP channels play a key role in glucose-stimulated insulin secretion, and gain or loss of channel fu...
متن کاملDiazoxide-unresponsive congenital hyperinsulinism associated with ABCC8 nonsense mutation
Case presentation A baby boy with birth weight of 2.4kg at 35 weeks was born via Caesarian section. The boy was allowed feeding on demands, however he had the first onset of hypoglycemia at 2 hours of life. His blood sugar ranged from low reading to 2.5 mmol/L. The patient was treated with boluses of intravenous dextrose D10% followed by maintenance dextrose with its increasing strength in orde...
متن کاملDiazoxide-Unresponsive Congenital Hyperinsulinism in Children With Dominant Mutations of the β-Cell Sulfonylurea Receptor SUR1
OBJECTIVE Congenital hyperinsulinemic hypoglycemia is a group of genetic disorders of insulin secretion most commonly associated with inactivating mutations of the β-cell ATP-sensitive K(+) channel (K(ATP) channel) genes ABCC8 (SUR1) and KCNJ11 (Kir6.2). Recessive mutations of these genes cause hyperinsulinism that is unresponsive to treatment with diazoxide, a channel agonist. Dominant K(ATP) ...
متن کاملIn Vitro Recovery of ATP-Sensitive Potassium Channels in β-Cells From Patients With Congenital Hyperinsulinism of Infancy
OBJECTIVE Congenital hyperinsulinism in infancy (CHI) is characterized by unregulated insulin secretion from pancreatic β-cells; severe forms are associated with defects in ABCC8 and KCNJ11 genes encoding sulfonylurea receptor 1 (SUR1) and Kir6.2 subunits, which form ATP-sensitive K(+) (K(ATP)) channels in β-cells. Diazoxide therapy often fails in the treatment of CHI and may be a result of red...
متن کاملConservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time
BACKGROUND Patients with Congenital Hyperinsulinism (CHI) due to mutations in K-ATP channel genes (K-ATP CHI) are increasingly treated by conservative medical therapy without pancreatic surgery. However, the natural history of medically treated K-ATP CHI has not been described; it is unclear if the severity of recessively and dominantly inherited K-ATP CHI reduces over time. We aimed to review ...
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ژورنال
عنوان ژورنال: Diabetes
سال: 2007
ISSN: 0012-1797,1939-327X
DOI: 10.2337/db07-0150