Congenital hyperinsulinism caused by hexokinase I expression or glucokinase-activating mutation in a subset of β-cells

Diabetes

Volumn 62, Issue 5, 2013, Pages 1689-1696

  Henquin, Jean Claude ^a   Sempoux, Christine ^a   Marchandise, Joelle ^a   Godecharles, Sebastien ^a   Guiot, Yves ^a   Nenquin, Myriam ^a   Rahier, Jacques ^a  

^a UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

DIAZOXIDE; GLUCOKINASE; GLUCOSE; HEXOKINASE 1; INSULIN; ISOLEUCINE; PHENYLALANINE; TOLBUTAMIDE;

ANIMAL CELL; ARTICLE; BLOOD SAMPLING; CELL FUNCTION; CELL SUBPOPULATION; CLINICAL ARTICLE; CONTROLLED STUDY; DRUG INHIBITION; DRUG SENSITIVITY; GENE EXPRESSION; GLUCOSE BLOOD LEVEL; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IN VITRO STUDY; INSULIN BLOOD LEVEL; INSULIN RELEASE; NONHUMAN; PANCREAS; PANCREAS ISLET BETA CELL; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; PRIORITY JOURNAL; SOMATIC MUTATION;

AMINO ACID SUBSTITUTION; DIAZOXIDE; GLUCOKINASE; HEXOKINASE; HUMANS; HYPERINSULINISM; HYPOGLYCEMIC AGENTS; INFANT, NEWBORN; INSULIN; INSULIN-SECRETING CELLS; MUTATION; TOLBUTAMIDE;

EID: 84876522789     PISSN: 00121797     EISSN: 1939327X     Source Type: Journal    
DOI: 10.2337/db12-1414     Document Type: Article

References (50)

1. De León DD, Stanley CA. Mechanisms of Disease: advances in diagnosis and treatment of hyperinsulinism in neonates. Nat Clin Pract Endocrinol Metab 2007;3:57-68 (Pubitemid 46006613)
2. Arnoux JB, de Lonlay P, Ribeiro MJ, et al. Congenital hyperinsulinism. Early Hum Dev 2010;86:287-294
3. Senniappan S, Shanti B, James C, Hussain K. Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management. J Inherit Metab Dis 2012;35:589-601
4. Thomas PM, Cote GJ, Wohllk N, et al. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science 1995;268:426-429
5. Thomas P, Ye Y, Lightner E. Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Hum Mol Genet 1996;5:1809-1812 (Pubitemid 26372418)
6. Aguilar-Bryan L, Bryan J. Molecular biology of adenosine triphosphate-sensitive potassium channels. Endocr Rev 1999;20:101-135 (Pubitemid 29339588)
7. Ashcroft FM. ATP-sensitive potassium channelopathies: focus on insulin secretion. J Clin Invest 2005;115:2047-2058 (Pubitemid 41134141)
8. Rahier J, Fält K, Müntefering H, Becker K, Gepts W, Falkmer S. The basic structural lesion of persistent neonatal hypoglycaemia with hyperinsulinism: deficiency of pancreatic D cells or hyperactivity of B cells? Diabetologia 1984;26:282-289 (Pubitemid 14137826)
9. Goossens A, Gepts W, Saudubray JM, et al. Diffuse and focal nesidioblastosis. A clinicopathological study of 24 patients with persistent neonatal hyperinsulinemic hypoglycemia. Am J Surg Pathol 1989;13:766-775 (Pubitemid 19201947)
10. de Lonlay P, Fournet JC, Rahier J, et al. Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J Clin Invest 1997;100:802-807 (Pubitemid 27371697)
11. Rahier J, Sempoux C, Fournet JC, et al. Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: the pathologist's role. Histopathology 1998;32:15-19
12. ATP channel-independent pathways. Diabetes 2001;50:329-339
13. Dunne MJ, Cosgrove KE, Shepherd RM, Aynsley-Green A, Lindley KJ. Hyperinsulinism in infancy: from basic science to clinical disease. Physiol Rev 2004;84:239-275 (Pubitemid 38049881)
14. Henquin JC, Nenquin M, Sempoux C, et al. In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions. J Clin Invest 2011;121:3932-3942
15. Glaser B, Kesavan P, Heyman M, et al. Familial hyperinsulinism caused by an activating glucokinase mutation. N Engl J Med 1998;338:226-230 (Pubitemid 28047576)
16. Stanley CA, Lieu YK, Hsu BY, et al. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med 1998;338:1352-1357 (Pubitemid 28216664)
17. Otonkoski T, Jiao H, Kaminen-Ahola N, et al. Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic β cells. Am J Hum Genet 2007;81:467-474 (Pubitemid 47330206)
18. Pearson ER, Boj SF, Steele AM, et al. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med 2007;4:e118
19. Clayton PT, Eaton S, Aynsley-Green A, et al. Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. J Clin Invest 2001;108:457-465 (Pubitemid 32730792)
20. González-Barroso MM, Giurgea I, Bouillaud F, et al. Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion. PLoS ONE 2008;3:e3850
21. Stanescu DE, Hughes N, Kaplan B, Stanley CA, De León DD. Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. J Clin Endocrinol Metab 2012;97:E2026-E2030
22. Sempoux C, Capito C, Bellanné-Chantelot C, et al. Morphological mosaicism of the pancreatic islets: a novel anatomopathological form of persistent hyperinsulinemic hypoglycemia of infancy. J Clin Endocrinol Metab 2011;96:3785-3793
23. Henquin JC, Dufrane D, Nenquin M. Nutrient control of insulin secretion in isolated normal human islets. Diabetes 2006;55:3470-3477 (Pubitemid 44923607)
24. Capito K, Hedeskov CJ. Inosine-stimulated insulin release and metabolism of inosine in isolated mouse pancreatic islets. Biochem J 1976;158:335-340
25. Bozem M, Garrino MG, Henquin JC. Inosine partially mimics the effects of glucose on ionic fluxes, electrical activity, and insulin release in mouse pancreatic B-cells. Pflugers Arch 1987;410:457-463 (Pubitemid 18029396)
26. Ishihara H, Wang H, Drewes LR, Wollheim CB. Overexpression of monocarboxylate transporter and lactate dehydrogenase alters insulin secretory responses to pyruvate and lactate in β cells. J Clin Invest 1999;104:1621-1629 (Pubitemid 30002374)
27. Heissig H, Urban KA, Hastedt K, Zünkler BJ, Panten U. Mechanism of the insulin-releasing action of α-ketoisocaproate and related α-keto acid anions. Mol Pharmacol 2005;68:1097-1105 (Pubitemid 41345801)
28. Verkarre V, Fournet JC, de Lonlay P, et al. Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J Clin Invest 1998;102:1286-1291 (Pubitemid 28467556)
29. Damaj L, le Lorch M, Verkarre V, et al. Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism. J Clin Endocrinol Metab 2008;93:4941-4947
30. Kassem SA, Ariel I, Thornton PS, et al. p57(KIP2) expression in normal islet cells and in hyperinsulinism of infancy. Diabetes 2001;50:2763-2769 (Pubitemid 33733127)
31. Sempoux C, Guiot Y, Dahan K, et al. The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma. Diabetes 2003;52:784-794 (Pubitemid 36323587)
32. Bedoya FJ, Wilson JM, Ghosh AK, Finegold D, Matschinsky FM. The glucokinase glucose sensor in human pancreatic islet tissue. Diabetes 1986;35:61-67 (Pubitemid 16162828)
33. De Vos A, Heimberg H, Quartier E, et al. Human and rat β cells differ in glucose transporter but not in glucokinase gene expression. J Clin Invest 1995;96:2489-2495
34. Doliba NM, Qin W, Najafi H, et al. Glucokinase activation repairs defective bioenergetics of islets of Langerhans isolated from type 2 diabetics. Am J Physiol Endocrinol Metab 2012;302:E87-E102
35. Schuit F, Moens K, Heimberg H, Pipeleers D. Cellular origin of hexokinase in pancreatic islets. J Biol Chem 1999;274:32803-32809 (Pubitemid 129535313)
36. Epstein PN, Boschero AC, Atwater I, Cai X, Overbeek PA. Expression of yeast hexokinase in pancreatic β cells of transgenic mice reduces blood glucose, enhances insulin secretion, and decreases diabetes. Proc Natl Acad Sci USA 1992;89:12038-12042 (Pubitemid 23004780)
37. Ishihara H, Asano T, Tsukuda K, et al. Overexpression of hexokinase I but not GLUT1 glucose transporter alters concentration dependence of glucose-stimulated insulin secretion in pancreatic β-cell line MIN6. J Biol Chem 1994;269:3081-3087 (Pubitemid 24235819)
38. Becker TC, BeltrandelRio H, Noel RJ, Johnson JH, Newgard CB. Overexpression of hexokinase I in isolated islets of Langerhans via recombinant adenovirus. Enhancement of glucose metabolism and insulin secretion at basal but not stimulatory glucose levels. J Biol Chem 1994;269:21234-21238
39. Pal P, Miller BG. Activating mutations in the human glucokinase gene revealed by genetic selection. Biochemistry 2009;48:814-816
40. Sayed S, Langdon DR, Odili S, et al. Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations. Diabetes 2009;58:1419-1427
41. Gloyn AL, Noordam K, Willemsen MA, et al. Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations. Diabetes 2003;52:2433-2440 (Pubitemid 37059517)
42. Cuesta-Muñoz AL, Huopio H, Otonkoski T, et al. Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation. Diabetes 2004;53:2164-2168 (Pubitemid 38970771)
43. Hashimoto N, Kido Y, Uchida T, et al. PKClambda regulates glucose-induced insulin secretion through modulation of gene expression in pancreatic β cells. J Clin Invest 2005;115:138-145 (Pubitemid 40385514)
44. Wang H, Gauthier BR, Hagenfeldt-Johansson KA, Iezzi M, Wollheim CB. Foxa2 (HNF3β) controls multiple genes implicated in metabolism-secretion coupling of glucose-induced insulin release. J Biol Chem 2002;277:17564-17570 (Pubitemid 34967558)
45. Sund NJ, Vatamaniuk MZ, Casey M, et al. Tissue-specific deletion of Foxa2 in pancreatic β cells results in hyperinsulinemic hypoglycemia. Genes Dev 2001;15:1706-1715 (Pubitemid 32702591)
46. Lantz KA, Vatamaniuk MZ, Brestelli JE, Friedman JR, Matschinsky FM, Kaestner KH. Foxa2 regulates multiple pathways of insulin secretion. J Clin Invest 2004;114:512-520 (Pubitemid 39572101)
47. Huopio H, Reimann F, Ashfield R, et al. Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. J Clin Invest 2000;106:897-906
48. Pinney SE, MacMullen C, Becker S, et al. Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. J Clin Invest 2008;118:2877-2886
49. Flanagan SE, Kapoor RR, Banerjee I, et al. Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia. Clin Genet 2011;79:582-587
50. Macmullen CM, Zhou Q, Snider KE, et al. Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the β-cell sulfonylurea receptor SUR1. Diabetes 2011;60:1797-1804