Channeling dysglycemia: Ion-channel variations perturbing glucose homeostasis

Trends in Endocrinology and Metabolism

Volumn 23, Issue 1, 2012, Pages 41-48

  Denton, Jerod Scott ^a   Jacobson, David Aaron ^a  

^a VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE SENSITIVE POTASSIUM CHANNEL; GLUCOSE; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; ION CHANNEL; KCNJ15 PROTEIN; PANCREAS HORMONE; POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNQ1; SULFONYLUREA; SULFONYLUREA RECEPTOR 1; TRANSMEMBRANE CONDUCTANCE REGULATOR; UNCLASSIFIED DRUG; VOLTAGE GATED CALCIUM CHANNEL;

BLOOD GLUCOSE MONITORING; DIABETES MELLITUS; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GLUCOSE HOMEOSTASIS; HORMONE RELEASE; HUMAN; HYPERGLYCEMIA; HYPERINSULINEMIA; NON INSULIN DEPENDENT DIABETES MELLITUS; NONHUMAN; PANCREAS ISLET; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

ANIMALS; BLOOD GLUCOSE; CALCIUM CHANNELS, R-TYPE; GLUCOSE METABOLISM DISORDERS; HOMEOSTASIS; HUMANS; INSULIN; ION CHANNELS; ISLETS OF LANGERHANS; KATP CHANNELS; KCNQ1 POTASSIUM CHANNEL; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; POTASSIUM CHANNELS, INWARDLY RECTIFYING;

EID: 84855247097     PISSN: 10432760     EISSN: 18793061     Source Type: Journal    
DOI: 10.1016/j.tem.2011.09.004     Document Type: Review

References (90)

1. Henquin J.C., et al. Nutrient control of insulin secretion in isolated normal human islets. Diabetes 2006, 55:3470-3477.
2. Braun M., et al. Exocytotic properties of human pancreatic beta-cells. Ann. N. Y. Acad. Sci. 2009, 1152:187-193.
3. Drews G., et al. Electrophysiology of islet cells. Adv. Exp. Med. Biol. 2010, 654:115-163.
4. Gromada J., et al. Alpha-cells of the endocrine pancreas: 35 years of research but the enigma remains. Endocr. Rev. 2007, 28:84-116.
5. Ramracheya R., et al. Membrane potential-dependent inactivation of voltage-gated ion channels in alpha-cells inhibits glucagon secretion from human islets. Diabetes 2010, 59:2198-2208.
6. MacDonald P.E., et al. A K ATP channel-dependent pathway within alpha cells regulates glucagon release from both rodent and human islets of Langerhans. PLoS Biol. 2007, 5:e143.
7. Yang S.N., Berggren P.O. The role of voltage-gated calcium channels in pancreatic beta-cell physiology and pathophysiology. Endocr. Rev. 2006, 27:621-676.
8. Braun M., et al. Voltage-gated ion channels in human pancreatic beta-cells: electrophysiological characterization and role in insulin secretion. Diabetes 2008, 57:1618-1628.
9. Braun M., et al. Somatostatin release, electrical activity, membrane currents and exocytosis in human pancreatic delta cells. Diabetologia 2009, 52:1566-1578.
10. Gloyn A.L., et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N. Engl. J. Med. 2004, 350:1838-1849.
11. + channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes 2007, 56:1930-1937.
12. Flanagan S.E., et al. 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. Hum. Mutat. 2009, 30:170-180.
13. Greeley S.A., et al. Update in neonatal diabetes. Curr. Opin. Endocrinol. Diab. Obes. 2010, 17:13-19.
14. Okamoto K., et al. Identification of KCNJ15 as a susceptibility gene in Asian patients with type 2 diabetes mellitus. Am. J. Hum. Genet. 2010, 86:54-64.
15. Yasuda K., et al. Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus. Nat. Genet. 2008, 40:1092-1097.
16. Voight B.F., et al. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat. Genet. 2010, 42:579-589.
17. 2+ channel Ca (V)2.3 (CACNA1E) are associated with type 2 diabetes and impaired insulin secretion. Diabetologia 2007, 50:2467-2475.
18. 2+ channels are associated with insulin resistance and type 2 diabetes in Pima Indians. Diabetes 2007, 56:3089-3094.
19. Ali B.R. Is cystic fibrosis-related diabetes an apoptotic consequence of ER stress in pancreatic cells?. Med. Hypotheses 2009, 72:55-57.
20. McTaggart J.S., et al. The role of the KATP channel in glucose homeostasis in health and disease: more than meets the islet. J. Physiol. 2010, 588:3201-3209.
21. Nichols C.G. KATP channels as molecular sensors of cellular metabolism. Nature 2006, 440:470-476.
22. Remedi M.S., Koster J.C. K(ATP) channelopathies in the pancreas. Pflugers Arch. 2010, 460:307-320.
23. 2+ currents in human pancreatic islet beta-cells: evidence for roles in the generation of action potentials and insulin secretion. Pflugers Arch. 1995, 431:272-282.
24. Sturgess N.C., et al. Effects of sulphonylureas and diazoxide on insulin secretion and nucleotide-sensitive channels in an insulin-secreting cell line. Br. J. Pharmacol. 1988, 95:83-94.
25. + channel in mouse pancreatic beta-cells. Pflugers Arch. 1986, 407:493-499.
26. Zwaveling-Soonawala N., et al. Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation. Diabetologia 2011, 54:469-471.
27. Proks P., et al. A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome. EMBO Rep. 2005, 6:470-475.
28. Langmann T., et al. Real-time reverse transcription-PCR expression profiling of the complete human ATP-binding cassette transporter superfamily in various tissues. Clin. Chem. 2003, 49:230-238.
29. + channel in insulin-secreting pancreatic beta-cells. J. Mol. Endocrinol. 1999, 22:113-123.
30. Nichols C.G., et al. Adenosine diphosphate as an intracellular regulator of insulin secretion. Science 1996, 272:1785-1787.
31. Mannikko R., et al. Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms. Hum. Mol. Genet. 2010, 19:963-972.
32. Koster J.C., et al. DEND mutation in Kir6.2 (KCNJ11) reveals a flexible N-terminal region critical for ATP-sensing of the KATP channel. Biophys. J. 2008, 95:4689-4697.
33. Zhou Q., et al. Neonatal diabetes caused by mutations in sulfonylurea receptor 1: interplay between expression and Mg-nucleotide gating defects of ATP-sensitive potassium channels. J. Clin. Endocrinol. Metab. 2010, 95:E473-E478.
34. Trapp S., et al. Identification of residues contributing to the ATP binding site of Kir6.2. EMBO J. 2003, 22:2903-2912.
35. Aguilar-Bryan L., et al. Cloning of the beta cell high-affinity sulfonylurea receptor: a regulator of insulin secretion. Science 1995, 268:423-426.
36. + channels in neonatal diabetes: implications for pharmacogenomic therapy. Diabetes 2005, 54:2645-2654.
37. Proks P., et al. Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. Proc. Natl. Acad. Sci. U.S.A. 2004, 101:17539-17544.
38. Chan K.W., et al. N-terminal transmembrane domain of the SUR controls trafficking and gating of Kir6 channel subunits. EMBO J. 2003, 22:3833-3843.
39. Thomas P.M., et al. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science 1995, 268:426-429.
40. Macmullen C.M., et al. Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the beta-cell sulfonylurea receptor SUR1. Diabetes 2011, 60:1797-1804.
41. Pinney S.E., et al. Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. J. Clin. Invest. 2008, 118:2877-2886.
42. Hugill A., et al. A mutation in KCNJ11 causing human hyperinsulinism (Y12X) results in a glucose-intolerant phenotype in the mouse. Diabetologia 2010, 53:2352-2356.
43. Palladino A.A., Stanley C.A. A specialized team approach to diagnosis and medical versus surgical treatment of infants with congenital hyperinsulinism. Semin. Pediatr. Surg. 2011, 20:32-37.
44. Inoue H., et al. Sequence variants in the sulfonylurea receptor (SUR) gene are associated with NIDDM in Caucasians. Diabetes 1996, 45:825-831.
45. Sakura H., et al. Sequence variations in the human Kir6.2 gene, a subunit of the beta-cell ATP-sensitive K-channel: no association with NIDDM in while Caucasian subjects or evidence of abnormal function when expressed in vitro. Diabetologia 1996, 39:1233-1236.
46. + channel gene (KIR6.2/BIR): a meta-analysis suggests a role in the polygenic basis of Type II diabetes mellitus in Caucasians. Diabetologia 1998, 41:1511-1515.
47. Gloyn A.L., et al. Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes. Diabetes 2003, 52:568-572.
48. + channels. Diabetes 2002, 51:875-879.
49. + channel activity and is associated with impaired insulin release and enhanced insulin sensitivity in adults with normal glucose tolerance. Diabetes 2009, 58:1869-1878.
50. Riedel M.J., et al. Current status of the E23K Kir6.2 polymorphism: implications for type-2 diabetes. Hum. Genet. 2005, 116:133-145.
51. Nielsen E.M., et al. The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin response and increased risk of type 2 diabetes. Diabetes 2003, 52:573-577.
52. Florez J.C., et al. Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region. Diabetes 2004, 53:1360-1368.
53. + channel in the beta-cell. Diabetes 2002, 51:3135-3138.
54. Tschritter O., et al. The prevalent Glu23Lys polymorphism in the potassium inward rectifier 6.2 (KIR6.2) gene is associated with impaired glucagon suppression in response to hyperglycemia. Diabetes 2002, 51:2854-2860.
55. Rorsman P., et al. K(ATP)-channels and glucose-regulated glucagon secretion. Trends Endocrinol. Metab. 2008, 19:277-284.
56. 2+]c by different mechanisms in isolated mouse alpha-cells. Diabetes 2009, 58:412-421.
57. Unger R.H., Orci L. Paracrinology of islets and the paracrinopathy of diabetes. Proc. Natl. Acad. Sci. U.S.A. 2010, 107:16009-16012.
58. + inward rectifier (Kir) 1.1 potassium channel homologs from human kidney (Kir1.2 and Kir1.3). J. Biol. Chem. 1997, 272:586-593.
59. Nerbonne J.M., Kass R.S. Molecular physiology of cardiac repolarization. Physiol. Rev. 2005, 85:1205-1253.
60. Tan J.T., et al. Polymorphisms identified through genome-wide association studies and their associations with type 2 diabetes in Chinese, Malays, and Asian-Indians in Singapore. J. Clin. Endocrinol. Metab. 2010, 95:390-397.
61. Jonsson A., et al. A variant in the KCNQ1 gene predicts future type 2 diabetes and mediates impaired insulin secretion. Diabetes 2009, 58:2409-2413.
62. Mussig K., et al. Association of type 2 diabetes candidate polymorphisms in KCNQ1 with incretin and insulin secretion. Diabetes 2009, 58:1715-1720.
63. Kong A., et al. Parental origin of sequence variants associated with complex diseases. Nature 2009, 462:868-874.
64. McCarthy M.I. Casting a wider net for diabetes susceptibility genes. Nat. Genet. 2008, 40:1039-1040.
65. Dedek K., Waldegger S. Colocalization of KCNQ1/KCNE channel subunits in the mouse gastrointestinal tract. Pflugers Arch. 2001, 442:896-902.
66. Lee M.P., et al. Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements. Nat. Genet. 1997, 15:181-185.
67. Smilinich N.J., et al. A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome. Proc. Natl. Acad. Sci. U.S.A. 1999, 96:8064-8069.
68. Rabinovitch A., et al. Insulin and multiplication stimulating activity (an insulin-like growth factor) stimulate islet (beta-cell replication in neonatal rat pancreatic monolayer cultures. Diabetes 1982, 31:160-164.
69. Andersen D.H. Cystic fibrosis of the pancreas and its relation to celiac disease: a clinical and pathologic study. Am. J. Dis. Child 1938, 56:344-399.
70. Lombardi F., et al. Diabetes in an infant with cystic fibrosis. Pediatr. Diab. 2004, 5:199-201.
71. Soejima K., Landing B.H. Pancreatic islets in older patients with cystic fibrosis with and without diabetes mellitus: morphometric and immunocytologic studies. Pediatr. Pathol. 1986, 6:25-46.
72. Ntimbane T., et al. Cystic fibrosis-related diabetes: from CFTR dysfunction to oxidative stress. Clin. Biochem. Rev. 2009, 30:153-177.
73. Mulberg A.E., et al. Cystic fibrosis transmembrane conductance regulator expression in human hypothalamus. Neuroreport 1998, 9:141-144.
74. Tradtrantip L., et al. Nanomolar potency pyrimido-pyrrolo-quinoxalinedione CFTR inhibitor reduces cyst size in a polycystic kidney disease model. J. Med. Chem. 2009, 52:6447-6455.
75. Janbon M., et al. Accidents hypoglycémiques graves par un sulfamidothiadiazol (le VK 57 ou 2254 RP). Montpellier Med. 1942, 441:21-22.
76. Sturgess N.C., et al. The sulphonylurea receptor may be an ATP-sensitive potassium channel. Lancet 1985, 2:474-475.
77. Franke H., Fuchs J. A new anti-diabetes principle; results of clinical research. Dtsch. Med. Wochenschr. 1955, 80:1449-1452.
78. Inagaki N., et al. Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor. Science 1995, 270:1166-1170.
79. Loubatières A. Analyse du mécanisme de l'action hypoglycémiante du p-amino-benzene-sulfamido-isopropylthiodiazol. Comp. Rend. Soc. Biol. 1944, 138:766-767.
80. Black J. Diazoxide and the treatment of hypoglycemia: an historical review. Ann. N. Y. Acad. Sci. 1968, 150:194-203.
81. Zhang C.L., et al. The cAMP sensor Epac2 is a direct target of antidiabetic sulfonylurea drugs. Science 2009, 325:607-610.
82. Herbst K.J., et al. Direct activation of Epac by sulfonylurea is isoform selective. Chem. Biol. 2011, 18:243-251.
83. Eliasson L., et al. SUR1 regulates PKA-independent cAMP-induced granule priming in mouse pancreatic B-cells. J. Gen. Physiol. 2003, 121:181-197.
84. Leech C.A., et al. Facilitation of ss-cell K(ATP) channel sulfonylurea sensitivity by a cAMP analog selective for the cAMP-regulated guanine nucleotide exchange factor Epac. Islets 2010, 2:72-81.
85. Tsalkova T., et al. Exchange protein directly activated by cyclic AMP isoform 2 is not a direct target of sulfonylurea drugs. Assay Drug Dev. Technol. 2011, 9:88-91.
86. Eliasson L., et al. PKC-dependent stimulation of exocytosis by sulfonylureas in pancreatic beta cells. Science 1996, 271:813-815.
87. Slingerland A.S., et al. Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene. Diabetologia 2006, 49:2559-2563.
88. Hansen J.B. Towards selective Kir6.2/SUR1 potassium channel openers, medicinal chemistry and therapeutic perspectives. Curr. Med. Chem. 2006, 13:361-376.
89. + channel Kir2.2 at 3.1Å resolution. Science 2009, 326:1668-1674.
90. Pettersen E.F., et al. UCSF Chimera - a visualization system for exploratory research and analysis. J. Comput. Chem. 2004, 25:1605-1612.