Defective ABCC8 can cause hypo- and hyper-glycemias

Stable Identifier
Homo sapiens
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ATP-binding cassette sub-family C member 8 (ABCC8) is a subunit of the beta-cell ATP-sensitive potassium channel (KATP). KATP channels play an important role in the control of insulin release. Elevation of the ATP:ADP ratio closes KATP channels leading to cellular depolarisation, calcium influx and exocytosis of insulin from its storage granules. Defects in ABCC8 can cause dysregulation of insulin secretion resulting in hyperglycemias or hypoglycemias. Specific phenotypes observed are noninsulin-dependent diabetes mellitus (NIDDM; MIM:125853), permanent neonatal diabetes mellitus (PNDM; MIM:606176), transient neonatal diabetes mellitus 2 (TNDM2; MIM:610374), familial hyperinsulinemic hypoglycemia 1 (HHF1; MIM:256450) and leucine-induced hypoglycemia (LIH; MIM:240800) (Edghill et al. 2010, Flanagan et al. 2009, Yorifuji 2014, Yang et al. 2010, Chandran et al. 2014).
Literature References
PubMed ID Title Journal Year
20500788 Leucine metabolism in regulation of insulin secretion from pancreatic beta cells

Wolf, BA, Chi, Y, Guan, Y, Burkhardt, BR, Yang, J

Nutr. Rev. 2010
20922570 Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11

Flanagan, SE, Ellard, S, Edghill, EL

Rev Endocr Metab Disord 2010
25077087 Congenital hyperinsulinism: current status and future perspectives

Yorifuji, T

Ann Pediatr Endocrinol Metab 2014
25317244 Molecular mechanisms of protein induced hyperinsulinaemic hypoglycaemia

Yap, F, Hussain, K, Chandran, S

World J Diabetes 2014
18767144 Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism

de Lonlay, P, Clauin, S, Flanagan, SE, Gloyn, AL, Bellanné-Chantelot, C, Ellard, S, Harries, LW

Hum. Mutat. 2009
Name Identifier Synonyms
hypoglycemia DOID:9993 Hypoglycaemia
hyperinsulinemic hypoglycemia DOID:13317 Islet cell hyperplasia, nesidioblastosis, persistent hyperinsulinemia hypoglycemia of infancy
neonatal diabetes mellitus DOID:11717 diabetes mellitus syndrome in newborn infant
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