Hyperinsulinism of infancy: Novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity

Journal of Clinical Endocrinology and Metabolism

Volumn 89, Issue 12, 2004, Pages 6224-6234

  Tornovsky, Sharona ^a   Crane, Ana ^c   Cosgrove, Karen E ^d   Hussain, Khalid ^e,f   Lavie, Judith ^a   Heyman, Ma'ayan ^a   Nesher, Yaron ^a   Kuchinski, Na'ama ^a   Ben Shushan, Etti ^a   Shatz, Olga ^a   Nahari, Efrat ^a   Potikha, Tamara ^a   Zangen, David ^b   Tenenbaum Rakover, Yardena ^g   De Vries, Liat ^h,i   Argente, Jesús ^j   Gracia, Ricardo ^k   Landau, Heddy ^b   Eliakim, Alon ^i,l   Lindley, Keith ^e,f   Dunne, Mark J ^d   Aguilar Bryan, Lydia ^c   Glaser, Benjamin ^a,b   more..

^a HEBREW UNIVERSITY   (Israel)

^b HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF MANCHESTER   (United Kingdom)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g HAEMEK MEDICAL CENTER   (Israel)

^h SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

ⁱ TEL AVIV UNIVERSITY   (Israel)

^j HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^k HOSPITAL INFANTIL LA PAZ   (Spain)

^l MEIR MEDICAL CENTER   (Israel)

more..

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; ADENOSINE TRIPHOSPHATE; GLUCOKINASE; GLUTAMATE DEHYDROGENASE; INWARDLY RECTIFYING POTASSIUM CHANNEL; SULFONYLUREA RECEPTOR;

ARTICLE; B LYMPHOCYTE; CONTROLLED STUDY; EXON; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; HUMAN; HYPERINSULINISM; INFANT; INFANT DISEASE; INTRACELLULAR TRANSPORT; INTRON; MISSENSE MUTATION; PHOTOAFFINITY LABELING; PRIORITY JOURNAL; PROMOTER REGION; REPORTER GENE;

EID: 10344259091     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2004-1233     Document Type: Article

References (46)

1. Aynsley-Green A, Polak JM, Bloom SR, Gough MH, Keeling J, Ashcroft SJ, Turner RC, Baum JD 1981 Nesidioblastosis of the pancreas: definition of the syndrome and the management of the severe neonatal hyperinsulinaemic hypoglycaemia. Arch Dis Child 56:496-508
2. Glaser B 2000 Hyperinsulinism of the newborn. Semin Perinatol 24:150-163
3. Dunne MJ, Cosgrove KE, Shepherd RM, Aynsley-Green A, Lindley KJ 2004 Hyperinsulinism in infancy: from basic science to clinical disease. Physiol Rev 84:239-275
4. Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W, Aguilar-Bryan L, Gagel RF, Bryan J 1995 Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science 268:426-429
5. Dunne MJ, Kane C, Shepherd RM, Sanchez JA, James RF, Johnson PR, Aynsley-Green A, Lu S, Clement IV JP, Lindley KJ, Seino S, Aguilar-Bryan L 1997 Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor. N Engl J Med 336:703-706
6. Nestorowicz A, Glaser B, Wilson BA, Shyng S-L, Nichols CG, Stanley CA, Thornton PS, Permutt MA 1998 Genetic heterogeneity in familial hyperinsulinism. Hum Mol Genet 7:1119-1128
7. de Lonlay P, Fournet JC, Touati G, Groos MS, Martin D, Sevin C, Delagne V, Mayaud C, Chigot V, Sempoux C, Brusset MC, Laborde K, Bellane-Chantelot C, Vassault A, Rahier J, Junien C, Brunelle F, Nihoul-Fekete C, Saudubray JM, Robert JJ 2002 Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases. Eur J Pediatr 161:37-48
8. Nichols CG, Shyng S-L, Nestorowicz A, Glaser B, Clement IV JP, Gonzalez G, Aguilar-Bryan L, Permutt MA, Bryan J 1996 Adenosine diphosphate as an intracellular regulator of insulin secretion. Science 272:1785-1787
9. Shyng SL, Ferrigni T, Shepard JB, Nestorowicz A, Glaser B, Permutt MA, Nichols CG 1998 Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy. Diabetes 47:1145-1151
10. Stanley CA, Lieu YK, Hsu BY, Burlina AB, Greenberg CR, Hopwood NJ, Perlman K, Rich BH, Zammarchi E, Poncz M 1998 Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med 338:1352-1357
11. De Lonlay P, Benelli C, Fouque F, Ganguly A, Aral B, Dionisi-Vici C, Touati G, Heinrichs C, Rabier D, Kamoun P, Robert JJ, Stanley C, Saudubray JM 2001 Hyperinsulinism and hyperammonemia syndrome: report of twelve unrelated patients. Pediatr Res 50:353-357
12. Christesen HB, Jacobsen BB, Odili S, Buettger C, Cuesta-Munoz A, Hansen T, Brusgaard K, Massa O, Magnuson MA, Shiota C, Matschinsky FM, Barbetti F 2002 The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy. Diabetes 51:1240-1246
13. Glaser B, Kesavan P, Heyman M, Davis E, Cuesta A, Buchs A, Stanley CA, Thornton PS, Permutt MA, Matschinsky FM, Herold KC 1998 Familial hyperinsulinism caused by an activating glucokinase mutation. N Engl J Med 338:226-230
14. Clayton PT, Eaton S, Aynsley-Green A, Edginton M, Hussain K, Krywawych S, Datta V, Malingre HE, Berger R, van den Berg IE 2001 Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of β-oxidation in insulin secretion. J Clin Invest 108:457-465
15. Eaton S, Chatziandreou I, Krywawych S, Pen S, Clayton PT, Hussain K 2003 Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle? Biochem Soc Trans 31:1137-1139
16. Molven A, Matre GE, Duran M, Wanders RJ, Rishaug U, Njolstad PR, Jellum E, Sovik O 2004 Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation. Diabetes 53:221-227
17. Otonkoski T, Kaminen N, Ustinov J, Lapatto R, Meissner T, Mayatepek E, Kere J, Sipila I 2003 Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. Diabetes 52:199-204
18. Meissner T, Otonkoski T, Feneberg R, Beinbrech B, Apostolidou S, Sipila I, Schaefer F, Mayatepek E 2001 Exercise induced hypoglycaemic hyperinsulinism. Arch Dis Child 84:254-257
19. Glaser B, Landau H, Permutt MA 1999 Neonatal hyperinsulinism. Trends Endocrinol Metab 10:55-61
20. Aynsley-Green A, Hussain K, Hall J, Saudubray JM, Nihoul-Fekete C, De Lonlay-Debeney P, Brunelle F, Otonkoski T, Thornton P, Lindley KJ 2000 Practical management of hyperinsulinism in infancy. Arch Dis Child Fetal Neonatal Ed 82:F98-F107
21. Ashfield R, Ashcroft SJ 1998 Cloning of the promoters for the β-cell ATP-sensitive K-channel subunits Kir6.2 and SUR1. Diabetes 47:1274-1280
22. Straub SG, Cosgrove KE, Ammala C, Shepherd RM, O'Brien RE, Barnes PD, Kuchinski N, Chapman JC, Schaeppi M, Glaser B, Lindley KJ, Sharp GW, Aynsley-Green A, Dunne MJ 2001 Hyperinsulinism of infancy: the regulated release of insulin by KATP channel-independent pathways. Diabetes 50:329-339
23. Sharrna N, Crane A, Clement JPI, Gonzalez G, Babenko AP, Bryan J, Aguilar-Bryan L 1999 The C terminus of SUR1 is required for trafficking of KATP channels. J Biol Chem 274:20628-20632
24. Ellis L, Clauser E, Morgan DO, Edery M, Roth RA, Rutter WJ 1986 Replacement of insulin receptor tyrosine residues 1162 and 1163 compromises insulin-stimulated kinase activity and uptake of 2-deoxyglucose. Cell 45:721-732
25. Aguilar-Bryan L, Clement 4th JP, Nelson DA 1998 Sulfonylurea receptors and ATP-sensitive potassium ion channels. Methods Enzymol 292:732-744
26. Clement IV JP, Kunjilwar K, Gonzalez G, Schwanstecher M, Panten U, Aguilar-Bryan L, Bryan J 1997 Association and stoichiometry of K(ATP) channel subunits. Neuron 18:827-838
27. Aguilar-Bryan L, Nichols CG, Wechsler SW, Clement 4th JP, Boyd 3rd AE, Gonzalez G, Herrera-Sosa H, Nguy K, Bryan J, Nelson DA 1995 Cloning of the β cell high-affinity sulfonylurea receptor: a regulator of insulin secretion. Science 268:423-426
28. Nestorowicz A, Wilson BA, Schoor KP, Inoue H, Glaser B, Landau H, Stanley CA, Thornton PS, Clement IV JP, Bryan J, Aguilar-Bryan L, Permutt MA 1996 Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinemia in Ashkenazi Jews. Hum Mol Genet 5:1813-1822
29. Glaser B, Furth J, Stanley CA, Baker L, Thornton PS, Landau H, Permutt MA 1999 Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism. Hum Mutat 14:23-29
30. Aguilar-Bryan L, Bryan J 1999 Molecular biology of adenosine triphosphate-sensitive potassium channels. Endocr Rev 20:101-135
31. Verkarre V, Fournet JC, de Lonlay P, Gross-Morand MS, Devillers M, Rahier J, Brunelle F, Robert JJ, Nihoul-Fekete C, Saudubray JM, Junien C 1998 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 102:1286-1291
32. Kuchinski N, Lavie J, Heyman M, Glaser B 2000 Mutation report. Hum Genet 107:204
33. ATP channels. Physiol Rev 78:227-245
34. Grimberg A, Ferry Jr RJ, Kelly A, Koo-McCoy S, Polonsky K, Glaser B, Permutt MA, Aguilar-Bryan L, Stafford D, Thornton PS, Baker L, Stanley CA 2001 Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations. Diabetes 50:322-328
35. Rahier J, Sempoux C, Fournet JC, Poggi F, Brunelle F, Nihoul-Fekete C, Saudubray JM, Jaubert F 1998 Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: the pathologist's role. Histopathology 32:15-19
36. Zerangue N, Schwappach B, Jan YN, Jan LY 1999 A new ER trafficking signal regulates the subunit stoichiometry of plasma membrane KATP channels. Neuron 22:537-548
37. Babenko AP, Bryan J 2003 Sur domains that associate with and gate KATP pores define a novel gatekeeper. J Biol Chem 278:41577-41580
38. Chan K, Zhang H, Logothetis D 2003 N-terminal transmembrane domain of the SUR controls trafficking and gating of Kir6 channel subunits. EMBO J 22:3833-3843
39. Yan F, Lin CW, Weisiger E, Cartier EA, Taschenberger G, Shyng SL 2004 Sulfonylureas correct trafficking defects of ATP-sensitive potassium channels caused by mutations in the sulfonylurea receptor. J Biol Chem 279:11096-11105
40. Cartier EA, Shen S, Shyng SL 2003 Modulation of the trafficking efficiency and functional properties of ATP-sensitive potassium channels through a single amino acid in the sulfonylurea receptor. J Biol Chem 278:7081-7090
41. Partridge CJ, Beech DJ, Sivaprasadarao A 2001 Identification and pharmacological correction of a membrane trafficking defect associated with a mutation in the sulfonylurea receptor causing familial hyperinsulinism. J Biol Chem 276:35947-35952
42. Taschenberger G, Mougey A, Shen S, Lester LB, LaFranchi S, Shyng SL 2002 Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels. J Biol Chem 277:17139-17146
43. Reimann F, Huopio H, Dabrowski M, Proks P, Gribble FM, Laakso M, Otonkoski T, Ashcroft FM 2003 Characterisation of new K(ATP)-channel mutations associated with congenital hyperinsulinism in the Finnish population. Diabetologia 46:241-249
44. Crane A, Aguilar-Bryan L 2004 Assembly, maturation, and turnover of K(ATP) channel subunits. J Biol Chem 279:9080-9090
45. Huopio H, Reimann F, Ashfield R, Komulainen J, Lenko HL, Rahier J, Vauhkonen I, Kere J, Laakso M, Ashcroft F, Otonkoski T 2000 Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. J Clin Invest 106:897-906
46. MacMullen C, Fang J, Hsu BY, Kelly A, de Lonlay-Debeney P, Saudubray JM, Ganguly A, Smith TJ, Stanley CA 2001 Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase. J Clin Endocrinol Metab 86:1782-1787