A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland

Diabetes

Volumn 48, Issue 2, 1999, Pages 408-415

  Otonkoski, Timo ^a,b   Ämmälä, Carina ^d   Huopio, Hanna ^a,b,c   Cote, Gilbert J ^e   Chapman, Joanna ^g   Cosgrove, Karen ^g   Ashfield, Rebecca ^h   Huang, Eileen ^e   Komulainen, Jorma ^c   Ashcroft, Frances M ^h   Dunne, Mark J ^g   Kere, Juha ^a   Thomas, Pamela M ^f  

^a UNIVERSITY OF HELSINKI   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c KUOPIO UNIVERSITY HOSPITAL   (Finland)

^d UNIVERSITY OF GOTHENBURG   (Sweden)

^e UNIVERSITY OF TEXAS   (United States)

^f UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^g UNIVERSITY OF SHEFFIELD   (United Kingdom)

^h UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

POTASSIUM CHANNEL; SULFONYLUREA; SULFONYLUREA RECEPTOR;

AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CHROMOSOME 11Q; DISEASE SEVERITY; FEMALE; FINLAND; GENETIC DISORDER; HAPLOTYPE; HUMAN; HYPERINSULINEMIA; INCIDENCE; INSULIN HYPOGLYCEMIA; INSULIN RELEASE; MALE; MARKER GENE; PANCREAS ISLET BETA CELL; PANCREAS RESECTION; POINT MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADENOSINE TRIPHOSPHATE; ANIMALS; ATP-BINDING CASSETTE TRANSPORTERS; ELECTROPHYSIOLOGY; FEMALE; FINLAND; HAPLOTYPES; HUMANS; HYPERINSULINISM; HYPOGLYCEMIA; INCIDENCE; INFANT; INFANT, NEWBORN; ISLETS OF LANGERHANS; MALE; MUTATION; POINT MUTATION; POTASSIUM CHANNELS; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RECEPTORS, DRUG; RECOMBINANT PROTEINS; XENOPUS LAEVIS;

EID: 0344629350     PISSN: 00121797     EISSN: None     Source Type: Journal    
DOI: 10.2337/diabetes.48.2.408     Document Type: Article

References (35)

1. Permutt MA, Nestorowicz A, Glaser B: Familial hyperinsulinism: an inherited disorder of spontaneous hypoglycemia in neonates and infants. Diabetes Rev 4:347-355, 1996
2. Aynsley-Green A, Polak JM, Bloom SR, Gough MH, Keeling J, Ashcroft SJH, Turner RC, Baum JD: Nesidioblastosis of the pancreas: definition of the syndrome and the management of the severe neonatal hyperinsulinemic hypoglycemia. Arch Dis Child 56:496-508, 1981
3. Meissner T, Brune W, Mayatepek E: Persistent hyperinsulinaemic hypoglycaemia of infancy: therapy, clinical outcome and mutational analysis. Eur J Pediatr 156:754-757, 1997
4. Aguilar-Bryan L, Bryan J: ATP-sensitive potassium channels, sulfonylurea receptors, and persistent hyperinsulinemic hypoglycemia of infancy. Diabetes Rev 4:336-346, 1996
5. Rorsman P: The pancreatic beta-cell as a fuel sensor an electrophysiologist's viewpoint. Diabetologia 40:487-495, 1997
6. Aguilar-Bryan LA, NichoLs CG, Wechsler SW, Clement JP, Boyd AE, Gonzalez G, Herrera-Sosa H, Nguy K, Bryan J, Nelson DA: Cloning of the β-cell high affinity sulfonylurea receptor: a regulator of insulin secretion. Science 268:423-426, 1995
7. Inagaki N, Gonoi T, Clement JP, Namba N, Inazawa J, Gonzalez G, Aquilar-Bryan L, Seino S, Bryan J: Reconstitution of 1-KATP: an inward rectifier subunit plus the sulfonylurea receptor. Science 270:1166-1170, 1995
8. Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W, Aquilar-Bryan L, Gagel RF, Bryan J: Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science 268:426-429, 1995
9. Thomas PM, Wohllk N, Huang E, Kuhnle U, Rahl W, Gagel RF, Cote GJ: Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy. Am J Hum Genet 59:510-518, 1996
10. Nestorowicz A, Glaser B, Wilson BA, Shyng SL, Nichols CG, Stanley CA, Thornton PS, Permutt MA: Genetic heterogeneity in familial hyperinsulinism. Hum Mol Genet 7:1119-1128, 1998
11. Thomas PM, Ye T, Lightner L: Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Hum Mol Genet 5:1809-1812, 1996
12. Nestorowicz A, Inagaki N, Gonoi T, Schoor KP, Wilson BA, Glaser B, Landau H, Stanley CA, Thornton PS, Seino S, Permutt MA: A nonsense mutation in the inward rectifier potassium channel gene, KIR6.2, is associated with familial hyperinsulinism. Diabetes 46:1743-1748, 1997
13. Bruining GJ: Recent advances in hyperinsulinism and the pathogenesis of diabetes mellitus. Curr Opin Pediatr 2:758-765, 1990
14. Nestorowicz A, Wilson BA, Schoor KP, Inoue H, Glaser B, Landau H, Stanley CA, Thornton PS, Clement JP IV, Bryan J, Aquilar-Bryan L, Permutt MA: Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Hum Mol Genet 5:1815-1822, 1996
15. Komulainen J, Heinonen K, Huopio H, Otonkoski T: High frequency of prematurity in newborns with persistent hyperinsulinemic hypoglycaemia (Abstract). Horm Res 46 (Suppl. 2):104, 1996
16. de la Chapelle A: Disease gene mapping in isolated human populations: the example of Finland. J Med Genet 30:857-865, 1993
17. Sankila EM, de la Chapelle A, Karna J, Forsius H, Frants R, Eriksson A: Choroideremia close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical-genealogical evidence. Clin Genet 31:315-322, 1997
18. Höglund P, Haila S, Socha J, Tomaszewski L, Saarialho-Kere U, Karjalainen-Lindsberg M-L, Airola K, Holmberg C, de la Chapelle A, Kere J: Mutatioas of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat Genet 14:316-319, 1996
19. Khorona S, Gagel RF, Cote GJ: Direct sequencing of PCR products in agarose gel slices. Nucleic Acids Res 22:3424-3426, 1994
20. Otonkoski T, Andersson S, Simell O: Somatostatin regulation of β-cell function in the normal human fetuses and in neonates with persistent hyperinsulinemic hypoglycemia. J Clin Endocrinol Metab 76:184-188, 1993
21. Brandhurst H, Klitcsher D, Hering BI, Federlin K, Bretzel RC: Influence of organ procurement on human islet isolation. Horm Metab Res 25:51-52, 1993
22. Hamill OP, Marty A, Neher E, Sakmann B, Sigwoith FJ: Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches. Pflügers Arch 391:85-100, 1981
23. Lebrun P, Antoine M-H, Ouedraogo R, Dunne MJ, Kane C, Hermann M, Herchuelz A, Masereel B, de Delarge J, Tullio P, Pirotte B: Activation of ATP-dependent K+ channels and inhibit ion of insulin release: effect of BPDZ-62. J Pharmarol Exp Ther 277:156-162, 1996
24. Gribble FM, Ashfield R, Ämmälä C, Ashcroft FM: Properties of cloned ATP-sensitive K+ currents expressed in Xenopus ooeytes. J Physiol 498:87-98, 1997
25. 2+ exchanger. Nature 353:715-718, 1991
26. Antunes JD, Geffner ME, Lippe BM, Landaw EM: Childhood hypoglycemia: differentiating hyperinsulinemic from nonhyperinsulinemic causes. J Pediatr 116:105-108, 1990
27. De Lonlay P, Fournet JC, Rahier J, Gross-Morand MS, Poggi-Travert F, Foussier V, Bonnefont JP, Brusset MC, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C: Somatic deletion of the imprinted 11p15 in sporadic hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J Clin Invest 100:802-807, 1997
28. Tsnuandy GE, Gakos E, Varadi A, Sarkadi B: Membrane topology distinguishes a subfamily of the ATP-binding cassette (ABC) transporters. FEBS Lett 402:1-3, 1997
29. ATP, channels in pancreatic β-cells causes persistent hyperinsulinemic hypoglycemia of infancy. Nat Med 2:1344-1347, 1996
30. Kane C, Lindley KJ, Johnson PR, James RF, Milla PJ, Aynsley-Green A, Dunne MJ: Therapy for persistent hyperinsulinemic hypoglycemia of infancy: understanding the respoasiveness of beta cells to diazoxide and somatostatin. J Clin Invest 100:1888-1893, 1997
31. Shyng S-L, Ferrigni T, Shepard JB, Nestorowicz A, Glaser B, Permutt MA, Nichols CG: Functional analyses of novel mutations in the sulphonylurea receptor 1 associated with persistent hyperinsulinaemic hypoglycaemia of infancy. Diabetes 47:1145-1151, 1998
32. Welsh MI, Smith AE: Molecular mechanism of CFTR chloride channel dysfunction in cystic fibrosis. Cell 73:1251-1254, 1993
33. Dunne MJ, Aynsley-Green A, Lindley KI: Nature's KATP-channel knockout. News Physiol Sci 12:197-203, 1997
34. Miki T, Tashiro F, Iwanaga T, Nagashima K, Yoshitomi H, Aihara H, Nitta Y, Gonoi T, Inagaki N, Miyazaki J, Seino S: Abnormalities of pancreatic islets by targeted expression of a dominant-negative K-ATP channel. Proc Natl Acad Sci U S A 94:11969-11973, 1997
35. Lindley KJ, Dunne MJ, Kane C, Shepherd RM, Squires PE, James RFL, Johnson PRV, Eckhardt S, Wakeling E, Dattani M, Milla PJ, Aynsley-Green A: Ionic control of beta cell function in nesidioblastosis: a possible therapeutic role for calcium channel blockade. Arch Dis Child 74:373-378, 1996