메뉴 건너뛰기




Volumn 54, Issue 2, 2015, Pages R119-R129

Molecular mechanisms of congenital hyperinsulinism

Author keywords

Congenital hyperinsulinism; Development; Genetics; Glucose; Human; Hypoglycaemia; Insulin; KATP channels

Indexed keywords

ADENOSINE TRIPHOSPHATE; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; MONOCARBOXYLATE TRANSPORTER 1; UNCOUPLING PROTEIN 2; INSULIN;

EID: 84929085950     PISSN: 09525041     EISSN: 14796813     Source Type: Journal    
DOI: 10.1530/JME-15-0016     Document Type: Review
Times cited : (48)

References (69)
  • 2
    • 0025145330 scopus 로고
    • Recent advances in hyperinsulinism and the pathogenesis of diabetes mellitus
    • Bruining GJ 1990 Recent advances in hyperinsulinism and the pathogenesis of diabetes mellitus. Current Opinion in Pediatrics 2 758–765. (doi:10.1097/00008480-199008000-00024)
    • (1990) Current Opinion in Pediatrics , vol.2 , pp. 758-765
    • Bruining, G.J.1
  • 5
    • 1542305428 scopus 로고    scopus 로고
    • Assembly, maturation, and turnover of KATP channel subunits
    • Crane A & Aguilar-Bryan L 2004 Assembly, maturation, and turnover of KATP channel subunits. Journal of Biological Chemistry 279 9080–9090. (doi:10.1074/jbc.M311079200)
    • (2004) Journal of Biological Chemistry , vol.279 , pp. 9080-9090
    • Crane, A.1    Aguilar-Bryan, L.2
  • 10
    • 37649024444 scopus 로고    scopus 로고
    • Role of uncoupling protein UCP2 in cell-mediated immunity: How macrophage- mediated insulitis is accelerated in a model of autoimmune diabetes
    • Emre Y, Hurtaud C, Karaca M, Nubel T, Zavala F & Ricquier D 2007 Role of uncoupling protein UCP2 in cell-mediated immunity: how macrophage- mediated insulitis is accelerated in a model of autoimmune diabetes. PNAS 104 19085–19090. (doi:10.1073/pnas.0709557104)
    • (2007) PNAS , vol.104 , pp. 19085-19090
    • Emre, Y.1    Hurtaud, C.2    Karaca, M.3    Nubel, T.4    Zavala, F.5    Ricquier, D.6
  • 11
    • 59749094454 scopus 로고    scopus 로고
    • Update of mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism
    • Flanagan SE, Clauin S, Bellanne-Chantelot C, de Lonlay P, Harries LW, Gloyn AL & Ellard S 2009 Update of mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. Human Mutation 30 170–180. (doi:10.1002/humu.20838)
    • (2009) Human Mutation , vol.30 , pp. 170-180
    • Flanagan, S.E.1    Clauin, S.2    Bellanne-Chantelot, C.3    De Lonlay, P.4    Harries, L.W.5    Gloyn, A.L.6    Ellard, S.7
  • 13
    • 0026632641 scopus 로고
    • Evidence that glucose can control insulin release independently from its action on ATP-sensitive KC channels in mouse B cells
    • Gembal M, Gilon P & Henquin JC 1992 Evidence that glucose can control insulin release independently from its action on ATP-sensitive KC channels in mouse B cells. Journal of Clinical Investigation 89 1288–1295. (doi:10.1172/JCI115714)
    • (1992) Journal of Clinical Investigation , vol.89 , pp. 1288-1295
    • Gembal, M.1    Gilon, P.2    Henquin, J.C.3
  • 14
    • 0036431323 scopus 로고    scopus 로고
    • The cytoplasmic C-terminus of the sulfonylurea receptor is important for KATP channel function but is not key for complex assembly or trafficking
    • Giblin JP, Quinn K & Tinker A 2002 The cytoplasmic C-terminus of the sulfonylurea receptor is important for KATP channel function but is not key for complex assembly or trafficking. European Journal of Biochemistry 269 5303–5313. (doi:10.1046/j.1432-1033.2002.03249.x)
    • (2002) European Journal of Biochemistry , vol.269 , pp. 5303-5313
    • Giblin, J.P.1    Quinn, K.2    Tinker, A.3
  • 15
    • 34247482763 scopus 로고    scopus 로고
    • Type 2 diabetes: Hypoinsulinism, hyperinsulinism, or both?
    • Glaser B 2007 Type 2 diabetes: hypoinsulinism, hyperinsulinism, or both? PLoS Medicine 4 e148. (doi:10.1371/journal.pmed.0040148)
    • (2007) Plos Medicine , vol.4
    • Glaser, B.1
  • 19
    • 19944367869 scopus 로고    scopus 로고
    • Pancreatic islet adaptation to fasting is dependent on peroxisome proliferator-activated receptor a transcriptional up-regulation of fatty acid oxidation
    • Gremlich S, Nolan C, Roduit R, Burcelin R, Peyot ML, Delghingaro-Augusto V, Desvergne B , Michalik L, Prentki M & Wahli W 2005 Pancreatic islet adaptation to fasting is dependent on peroxisome proliferator-activated receptor a transcriptional up-regulation of fatty acid oxidation. Endocrinology 146 375–382. (doi:10.1210/en.2004-0667)
    • (2005) Endocrinology , vol.146 , pp. 375-382
    • Gremlich, S.1    Nolan, C.2    Roduit, R.3    Burcelin, R.4    Peyot, M.L.5    Delghingaro-Augusto, V.6    Desvergne, B.7    Michalik, L.8    Prentki, M.9    Wahli, W.10
  • 22
    • 84876522789 scopus 로고    scopus 로고
    • Congenital hyperinsulinism caused by hexokinase I expression or glucokinase-activating mutation in a subset of b-cells
    • Henquin JC, Sempoux C, Marchandise J, Godecharles S, Guiot Y, Nenquin M & Rahier J 2013 Congenital hyperinsulinism caused by hexokinase I expression or glucokinase-activating mutation in a subset of b-cells. Diabetes 62 1689–1696. (doi:10.2337/db12-1414)
    • (2013) Diabetes , vol.62 , pp. 1689-1696
    • Henquin, J.C.1    Sempoux, C.2    Marchandise, J.3    Godecharles, S.4    Guiot, Y.5    Nenquin, M.6    Rahier, J.7
  • 25
    • 38449123375 scopus 로고    scopus 로고
    • An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism
    • Hussain K, Flanagan SE, Smith VV, Ashworth M, Day M, Pierro A & Ellard S 2008 An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism. Diabetes 57 259–263. (doi:10.2337/db07-0998)
    • (2008) Diabetes , vol.57 , pp. 259-263
    • Hussain, K.1    Flanagan, S.E.2    Smith, V.V.3    Ashworth, M.4    Day, M.5    Pierro, A.6    Ellard, S.7
  • 29
    • 0028786663 scopus 로고
    • Glucose stimulation of insulin release in the absence of extracellular Ca2C and in the absence of any increase in intracellular Ca2C in rat pancreatic islets
    • Komatsu M, Schermerhorn T, Aizawa T & Sharp GW 1995 Glucose stimulation of insulin release in the absence of extracellular Ca2C and in the absence of any increase in intracellular Ca2C in rat pancreatic islets. PNAS 92 10728–10732. (doi:10.1073/pnas.92.23.10728)
    • (1995) PNAS , vol.92 , pp. 10728-10732
    • Komatsu, M.1    Schermerhorn, T.2    Aizawa, T.3    Sharp, G.W.4
  • 30
    • 0026555197 scopus 로고
    • A transcriptional hierarchy involved in mammalian cell-type specification
    • Kuo CJ, Conley PB, Chen L, Sladek FM, Darnell JE Jr & Crabtree GR 1992 A transcriptional hierarchy involved in mammalian cell-type specification. Nature 355 457–461. (doi:10.1038/355457a0)
    • (1992) Nature , vol.355 , pp. 457-461
    • Kuo, C.J.1    Conley, P.B.2    Chen, L.3    Sladek, F.M.4    Darnell, J.E.5    Crabtree, G.R.6
  • 32
    • 77957760755 scopus 로고    scopus 로고
    • Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase
    • Li C, Chen P, Palladino A, Narayan S, Russell LK, Sayed S, Xiong G, Chen J, Stokes D, Butt YM et al. 2010 Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. Journal of Biological Chemistry 285 31806–31818. (doi:10.1074/jbc.M110.123638)
    • (2010) Journal of Biological Chemistry , vol.285 , pp. 31806-31818
    • Li, C.1    Chen, P.2    Palladino, A.3    Narayan, S.4    Russell, L.K.5    Sayed, S.6    Xiong, G.7    Chen, J.8    Stokes, D.9    Butt, Y.M.10
  • 33
    • 79959407988 scopus 로고    scopus 로고
    • Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the b-cell sulfonylurea receptor SUR1
    • MacMullen CM, Zhou Q, Snider KE, Tewson PH, Becker SA, Aziz AR, Ganguly A, Shyng S-L & Stanley CA 2011 Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the b-cell sulfonylurea receptor SUR1. Diabetes 60 1797–1804. (doi:10.2337/db10-1631)
    • (2011) Diabetes , vol.60 , pp. 1797-1804
    • Macmullen, C.M.1    Zhou, Q.2    Snider, K.E.3    Tewson, P.H.4    Becker, S.A.5    Aziz, A.R.6    Ganguly, A.7    Shyng, S.-L.8    Stanley, C.A.9
  • 34
    • 0036896635 scopus 로고    scopus 로고
    • Regulation of pancreatic b-cell glucokinase: From basics to therapeutics
    • Matschinsky FM 2002 Regulation of pancreatic b-cell glucokinase: from basics to therapeutics. Diabetes 51 (Suppl 3) S394–S404. (doi:10.2337/diabetes.51.2007.S394)
    • (2002) Diabetes , vol.51
    • Matschinsky, F.M.1
  • 35
    • 0034731305 scopus 로고    scopus 로고
    • Functional analysis of a mutant sulfonylurea receptor, SUR1-R1420C, that is responsible for persistent hyperinsulinemic hypoglycemia of infancy
    • Matsuo M, Trapp S, Tanizawa Y, Kioka N, Amachi T, Oka Y, Ashcroft FM & Ueda K 2000 Functional analysis of a mutant sulfonylurea receptor, SUR1-R1420C, that is responsible for persistent hyperinsulinemic hypoglycemia of infancy. Journal of Biological Chemistry 275 41184–41191. (doi:10.1074/jbc.M006503200)
    • (2000) Journal of Biological Chemistry , vol.275 , pp. 41184-41191
    • Matsuo, M.1    Trapp, S.2    Tanizawa, Y.3    Kioka, N.4    Amachi, T.5    Oka, Y.6    Ashcroft, F.M.7    Ueda, K.8
  • 38
    • 0037221769 scopus 로고    scopus 로고
    • Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release
    • 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. (doi:10.2337/diabetes.52.1.199)
    • (2003) Diabetes , vol.52 , pp. 199-204
    • Otonkoski, T.1    Kaminen, N.2    Ustinov, J.3    Lapatto, R.4    Meissner, T.5    Mayatepek, E.6    Kere, J.7    Sipila¨, I.8
  • 43
    • 84863214806 scopus 로고    scopus 로고
    • Overexpression of monocarboxylate transporter-1 (Slc16a1) in mouse pancreatic b-cells leads to relative hyperinsulinism during exercise
    • Pullen TJ, Sylow L, Sun G, Halestrap AP, Richter EA & Rutter GA 2012 Overexpression of monocarboxylate transporter-1 (Slc16a1) in mouse pancreatic b-cells leads to relative hyperinsulinism during exercise. Diabetes 61 1719–1725. (doi:10.2337/db11-1531)
    • (2012) Diabetes , vol.61 , pp. 1719-1725
    • Pullen, T.J.1    Sylow, L.2    Sun, G.3    Halestrap, A.P.4    Richter, E.A.5    Rutter, G.A.6
  • 44
    • 0021320297 scopus 로고
    • The basic structural lesion of persistent neonatal hypoglycaemia with hyperinsulinism: Deficiency of pancreatic D cells or hyperactivity of B cells?
    • Rahier J, Falt K, Muntefering H, Becker K, Gepts W & Falkmer S 1984 The basic structural lesion of persistent neonatal hypoglycaemia with hyperinsulinism: deficiency of pancreatic D cells or hyperactivity of B cells? Diabetologia 26 282–289. (doi:10.1007/BF00283651)
    • (1984) Diabetologia , vol.26 , pp. 282-289
    • Rahier, J.1    Falt, K.2    Muntefering, H.3    Becker, K.4    Gepts, W.5    Falkmer, S.6
  • 45
    • 0031936418 scopus 로고    scopus 로고
    • Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: The pathologist’s role
    • 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. (doi:10.1046/j.1365-2559.1998.00326.x)
    • (1998) Histopathology , vol.32 , pp. 15-19
    • Rahier, J.1    Sempoux, C.2    Fournet, J.C.3    Poggi, F.4    Brunelle, F.5    Nihoul-Fekete, C.6    Saudubray, J.M.7    Jaubert, F.8
  • 46
    • 0034119682 scopus 로고    scopus 로고
    • Persistent hyperinsulinaemic hypoglycaemia of infancy: A heterogeneous syndrome unrelated to nesidioblastosis. Archives of Disease in Childhood
    • Rahier J, Guiot Y & Sempoux C 2000 Persistent hyperinsulinaemic hypoglycaemia of infancy: a heterogeneous syndrome unrelated to nesidioblastosis. Archives of Disease in Childhood. Fetal and Neonatal Edition 82 F108–F112. (doi:10.1136/fn.82.2.F108)
    • (2000) Fetal and Neonatal Edition , vol.82
    • Rahier, J.1    Guiot, Y.2    Sempoux, C.3
  • 48
    • 0035128978 scopus 로고    scopus 로고
    • Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism–hyperammonemia syndrome
    • Santer R, Kinner M, Passarge M, Superti-Furga A, Mayatepek E, Meissner T, Schneppenheim R & Schaub J 2001 Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism–hyperammonemia syndrome. Human Genetics 108 66–71. (doi:10.1007/s004390000432)
    • (2001) Human Genetics , vol.108 , pp. 66-71
    • Santer, R.1    Kinner, M.2    Passarge, M.3    Superti-Furga, A.4    Mayatepek, E.5    Meissner, T.6    Schneppenheim, R.7    Schaub, J.8
  • 51
    • 12844251849 scopus 로고    scopus 로고
    • Focal and diffuse forms of congenital hyperinsulinism: The keys for differential diagnosis
    • Sempoux C, Guiot Y, Jaubert F & Rahier J 2004 Focal and diffuse forms of congenital hyperinsulinism: the keys for differential diagnosis. Endocrine Pathology 15 241–246. (doi:10.1385/EP:15:3:241)
    • (2004) Endocrine Pathology , vol.15 , pp. 241-246
    • Sempoux, C.1    Guiot, Y.2    Jaubert, F.3    Rahier, J.4
  • 54
    • 84922021098 scopus 로고    scopus 로고
    • Increased plasma incretin concentrations identifies a subset of patients with persistent congenital hyperinsulinism without KATP channel gene defects
    • Shi Y, Avatapalle HB,  Skae MS, Padidela R, Newbould M, Rigby L, Flanagan SE, Ellard S, Rahier J, Clayton PE et al. 2015 Increased plasma incretin concentrations identifies a subset of patients with persistent congenital hyperinsulinism without KATP channel gene defects. Journal of Pediatrics 166 191–194. (doi:10.1016/j.jpeds.2014.09.019)
    • (2015) Journal of Pediatrics , vol.166 , pp. 191-194
    • Shi, Y.1    Avatapalle, H.B.2    Skae, M.S.3    Padidela, R.4    Newbould, M.5    Rigby, L.6    Flanagan, S.E.7    Ellard, S.8    Rahier, J.9    Clayton, P.E.10
  • 55
    • 0031045497 scopus 로고    scopus 로고
    • Is 95% pancreatectomy the procedure of choice for treatment of persistent hyperinsulinemic hypoglycemia of the neonate?
    • Shilyansky J, Fisher S, Cutz E, Perlman K & Filler RM 1997 Is 95% pancreatectomy the procedure of choice for treatment of persistent hyperinsulinemic hypoglycemia of the neonate? Journal of Pediatric Surgery 32 342–346. (doi:10.1016/S0022-3468(97)90207-4)
    • (1997) Journal of Pediatric Surgery , vol.32 , pp. 342-346
    • Shilyansky, J.1    Fisher, S.2    Cutz, E.3    Perlman, K.4    Filler, R.M.5
  • 58
    • 0034029974 scopus 로고    scopus 로고
    • Molecular basis and characterization of the hyperinsulinism/ hyperammonemia syndrome: Predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA Contributing Investigators
    • Stanley CA, Fang J, Kutyna K, Hsu BY, Ming JE, Glaser B & Poncz M 2000 Molecular basis and characterization of the hyperinsulinism/ hyperammonemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA Contributing Investigators. Diabetes 49 667–673. (doi:10.2337/diabetes.49.4.667)
    • (2000) Diabetes , vol.49 , pp. 667-673
    • Stanley, C.A.1    Fang, J.2    Kutyna, K.3    Hsu, B.Y.4    Ming, J.E.5    Glaser, B.6    Poncz, M.7
  • 60
    • 0842285629 scopus 로고    scopus 로고
    • Potential role of peroxisome proliferatoractivated receptor-a in the modulation of glucose-stimulated insulin secretion
    • Sugden MC & Holness MJ 2004 Potential role of peroxisome proliferatoractivated receptor-a in the modulation of glucose-stimulated insulin secretion. Diabetes 53 (Suppl 1) S71–S81. (doi:10.2337/diabetes.53.2007.S71)
    • (2004) Diabetes , vol.53
    • Sugden, M.C.1    Holness, M.J.2
  • 63
    • 0041819997 scopus 로고    scopus 로고
    • Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor
    • Thornton PS, MacMullen C, Ganguly A, Ruchelli E, Steinkrauss L, Crane A, Aguilar-Bryan L & Stanley CA 2003 Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor. Diabetes 52 2403–2410. (doi:10.2337/diabetes.52.9.2403)
    • (2003) Diabetes , vol.52 , pp. 2403-2410
    • Thornton, P.S.1    Macmullen, C.2    Ganguly, A.3    Ruchelli, E.4    Steinkrauss, L.5    Crane, A.6    Aguilar-Bryan, L.7    Stanley, C.A.8
  • 65
    • 0033695466 scopus 로고    scopus 로고
    • Direct interaction of Na-azide with the KATP channel
    • Trapp S & Ashcroft FM 2000 Direct interaction of Na-azide with the KATP channel. British Journal of Pharmacology 131 1105–1112. (doi:10.1038/sj.bjp.0703680)
    • (2000) British Journal of Pharmacology , vol.131 , pp. 1105-1112
    • Trapp, S.1    Ashcroft, F.M.2
  • 66
    • 77952626170 scopus 로고    scopus 로고
    • Systemic activation of glutamate dehydrogenase increases renal ammoniagenesis: Implications for the hyperinsulinism/hyperammonemia syndrome
    • Treberg JR, Clow KA, Greene KA, Brosnan ME & Brosnan JT 2010 Systemic activation of glutamate dehydrogenase increases renal ammoniagenesis: implications for the hyperinsulinism/hyperammonemia syndrome. American Journal of Physiology. Endocrinology and Metabolism 298 E1219–E1225. (doi:10.1152/ajpendo.00028.2010)
    • (2010) American Journal of Physiology. Endocrinology and Metabolism , vol.298
    • Treberg, J.R.1    Clow, K.A.2    Greene, K.A.3    Brosnan, M.E.4    Brosnan, J.T.5
  • 67
    • 0031005755 scopus 로고    scopus 로고
    • Truncation of Kir6.2 produces ATP-sensitive KC channels in the absence of the sulphonylurea receptor
    • Tucker SJ, Gribble FM, Zhao C, Trapp S & Ashcroft FM 1997 Truncation of Kir6.2 produces ATP-sensitive KC channels in the absence of the sulphonylurea receptor. Nature 387 179–183. (doi:10.1038/387179a0)
    • (1997) Nature , vol.387 , pp. 179-183
    • Tucker, S.J.1    Gribble, F.M.2    Zhao, C.3    Trapp, S.4    Ashcroft, F.M.5
  • 69
    • 0035875087 scopus 로고    scopus 로고
    • Uncoupling protein-2 negatively regulates insulin secretion and is a major link between obesity, b cell dysfunction, and type 2 diabetes
    • Zhang CY, Baffy G, Perret P, Krauss S, Peroni O, Grujic D, Hagen T, Vidal- Puig AJ, Boss O, Kim YB et al. 2001 Uncoupling protein-2 negatively regulates insulin secretion and is a major link between obesity, b cell dysfunction, and type 2 diabetes. Cell 105 745–755. (doi:10.1016/S0092-8674(01)00378-6)
    • (2001) Cell , vol.105 , pp. 745-755
    • Zhang, C.Y.1    Baffy, G.2    Perret, P.3    Krauss, S.4    Peroni, O.5    Grujic, D.6    Hagen, T.7    Vidal-Puig, A.J.8    Boss, O.9    Kim, Y.B.10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.