Human Molecular Genetics, Vol 5, 1809-1812, Copyright © 1996 by Oxford University Press
P Thomas, Y Ye and E Lightner
Closure of ATP-sensitive potassium channels in pancreatic islet beta- cells
initiates a cascade of events that leads to insulin secretion. beta-Cell
ATP-sensitive potassium currents can be reconstituted by coexpression of
the inward rectifier Kir6.2 and the sulfonylurea receptor (SUR), a member
of the ATP-binding cassette superfamily. Mutations in SUR have been
identified in individuals affected with familial persistent
hyper-insulinemic hypoglycemia of infancy (PHHI), an autosomal recessive
disorder of glucose metabolism which is linked to chromosome 11p15.1 and
characterized by unregulated secretion of insulin and profound
hypoglycemia. Because the Kir6.2 locus is within 5 kilobases (kb) of the
SUR gene on chromosome 11p15.1 and it is a necessary member of the
beta-cell KATP channel, we considered Kir6.2 as a candidate gene for PHHL
we identified a homozygous point mutation in Kir6.2 in the genomic DNA of a
child, severely affected with PHHI, from a consanguineous family. This
mutation is predicted to disrupt the conserved alpha-helical second
transmembrane (M2) domain of the inward rectifier by substitution of a
proline for a leucine residue (L147P). Mutation of Kir6.2, like SUR,
appears to lead to the PHHI phenotype suggesting that Kir6.2 is necessary,
although not sufficient, for normal regulation of insulin release.
ARTICLES
Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy
Department of Pediatrics, University of Michigan Medical School, Ann Arbor 48109, USA.
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|
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|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
 |
|
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|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
 |
|
 S. Bendahhou, M. R. Donaldson, N. M. Plaster, M. Tristani-Firouzi, Y.-H. Fu, and L. J. Ptacek Defective Potassium Channel Kir2.1 Trafficking Underlies Andersen-Tawil Syndrome J. Biol. Chem., December 19, 2003; 278(51): 51779 - 51785. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
C. A. Hubner and T. J. Jentsch Ion channel diseases Hum. Mol. Genet., October 1, 2002; 11(20): 2435 - 2445. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 H. Huopio, S.-L. Shyng, T. Otonkoski, and C. G. Nichols KATP channels and insulin secretion disorders Am J Physiol Endocrinol Metab, August 1, 2002; 283(2): E207 - E216. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L. Chen, T. Kawano, S. Bajic, Y. Kaziro, H. Itoh, J. J. Art, Y. Nakajima, and S. Nakajima A glutamate residue at the C terminus regulates activity of inward rectifier K+ channels: Implication for Andersen's syndrome PNAS, June 11, 2002; 99(12): 8430 - 8435. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H. B.T. Christesen, B. B. Jacobsen, S. Odili, C. Buettger, A. Cuesta-Munoz, T. Hansen, K. Brusgaard, O. Massa, M. A. Magnuson, C. Shiota, et al. The Second Activating Glucokinase Mutation (A456V): Implications for Glucose Homeostasis and Diabetes Therapy Diabetes, April 1, 2002; 51(4): 1240 - 1246. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Sadeghi-Nejad and F. M. Graeme-Cook Case 39-2001- A Newborn Girl with Seizures and Persistent Hypoglycemia N. Engl. J. Med., December 20, 2001; 345(25): 1833 - 1839. [Full Text] [PDF]
|
|
|
|
|
|
S. A. Kassem, I. Ariel, P. S. Thornton, K. Hussain, V. Smith, K. J. Lindley, A. Aynsley-Green, and B. Glaser p57KIP2 Expression in Normal Islet Cells and in Hyperinsulinism of Infancy Diabetes, December 1, 2001; 50(12): 2763 - 2769. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T. M Frayling and A. T Hattersley The role of genetic susceptibility in the association of low birth weight with type 2 diabetes Br. Med. Bull., November 1, 2001; 60(1): 89 - 101. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 N. J. Sund, M. Z. Vatamaniuk, M. Casey, S.-L. Ang, M. A. Magnuson, D. A. Stoffers, F. M. Matschinsky, and K. H. Kaestner Tissue-specific deletion of Foxa2 in pancreatic {beta} cells results in hyperinsulinemic hypoglycemia Genes & Dev., July 1, 2001; 15(13): 1706 - 1715. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J.-C. Fournet, C. Mayaud, P. de Lonlay, M.-S. Gross-Morand, V. Verkarre, M. Castanet, M. Devillers, J. Rahier, F. Brunelle, J.-J. Robert, et al. Unbalanced Expression of 11p15 Imprinted Genes in Focal Forms of Congenital Hyperinsulinism : Association with a Reduction to Homozygosity of a Mutation in ABCC8 or KCNJ11 Am. J. Pathol., June 1, 2001; 158(6): 2177 - 2184. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. MacMullen, J. Fang, B. Y. L. Hsu, A. Kelly, P. de Lonlay-Debeney, J.-M. Saudubray, A. Ganguly, T. J. Smith, and C. A. Stanley Hyperinsulinism/Hyperammonemia Syndrome in Children with Regulatory Mutations in the Inhibitory Guanosine Triphosphate-Binding Domain of Glutamate Dehydrogenase J. Clin. Endocrinol. Metab., April 1, 2001; 86(4): 1782 - 1787. [Abstract] [Full Text]
|
|
|
|
 |
|
 F. Menni, P. de Lonlay, C. Sevin, G. Touati, C. Peigné, V. Barbier, C. Nihoul-Fékété, J.-M. Saudubray, and J.-J. Robert Neurologic Outcomes of 90 Neonates and Infants With Persistent Hyperinsulinemic Hypoglycemia Pediatrics, March 1, 2001; 107(3): 476 - 479. [Abstract] [Full Text]
|
|
|
|
|
|
A. Grimberg, R.J. Ferry Jr., A. Kelly, S. Koo-McCoy, K. Polonsky, B. Glaser, M.A. Permutt, L. Aguilar-Bryan, D. Stafford, P.S. Thornton, et al. Dysregulation of Insulin Secretion in Children With Congenital Hyperinsulinism due to Sulfonylurea Receptor Mutations Diabetes, February 1, 2001; 50(2): 322 - 328. [Abstract] [Full Text]
|
|
|
|
 |
|
 B. ROSATI, P. MARCHETTI, O. CROCIANI, M. LECCHI, R. LUPI, A. ARCANGELI, M. OLIVOTTO, and E. WANKE Glucose- and arginine-induced insulin secretion by human pancreatic {beta}-cells: the role of HERG K+ channels in firing and release FASEB J, December 1, 2000; 14(15): 2601 - 2610. [Abstract] [Full Text]
|
|
|
|
 |
|
 C.-C. Shieh, M. Coghlan, J. P. Sullivan, and M. Gopalakrishnan Potassium Channels: Molecular Defects, Diseases, and Therapeutic Opportunities Pharmacol. Rev., December 1, 2000; 52(4): 557 - 594. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. M. Thomas Neonatal Insulin Secretion and Persistent Hyperinsulinemia of Infancy NeoReviews, November 1, 2000; 1(11): e210 - 214. [Full Text]
|
|
|
|
 |
|
 B. Glaser, P. Thornton, T. Otonkoski, and C. Junien Genetics of neonatal hyperinsulinism Arch. Dis. Child. Fetal Neonatal Ed., March 1, 2000; 82(2): 79F - 86. [Abstract] [Full Text]
|
|
|
|
|
|
J Rahier, Y Guiot, and C Sempoux Persistent hyperinsulinaemic hypoglycaemia of infancy: a heterogeneous syndrome unrelated to nesidioblastosis Arch. Dis. Child. Fetal Neonatal Ed., March 1, 2000; 82(2): 108F - 112. [Full Text]
|
|
|
|
 |
|
 D. V. Edidin, E. E. Farrell, and V. E. Gould Factitious Hyperinsulinemic Hypoglycemia in Infancy: Diagnostic Pitfalig Clinical Pediatrics, February 1, 2000; 39(2): 117 - 119. [PDF]
|
|
|
|
|
|
M. R. ABRAHAM, A. JAHANGIR, A. E. ALEKSEEV, and A. TERZIC Channelopathies of inwardly rectifying potassium channels FASEB J, November 1, 1999; 13(14): 1901 - 1910. [Abstract] [Full Text]
|
|
|
|
|
|
I. Nasonkin, A. Alikasifoglu, C. Ambrose, P. Cahill, M. Cheng, A. Sarniak, M. Egan, and P. M. Thomas A Novel Sulfonylurea Receptor Family Member Expressed in the Embryonic Drosophila Dorsal Vessel and Tracheal System J. Biol. Chem., October 8, 1999; 274(41): 29420 - 29425. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
F. Lehmann-Horn and K. Jurkat-Rott Voltage-Gated Ion Channels and Hereditary Disease Physiol Rev, October 1, 1999; 79(4): 1317 - 1372. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. E. Levitt Katz, R. J. Ferry Jr., C. A. Stanley, P. F. Collett-Solberg, L. Baker, and P. Cohen Suppression of Insulin Oversecretion by Subcutaneous Recombinant Human Insulin-Like Growth Factor I in Children with Congenital Hyperinsulinism Due to Defective {beta}-Cell Sulfonylurea Receptor J. Clin. Endocrinol. Metab., September 1, 1999; 84(9): 3117 - 3124. [Abstract] [Full Text]
|
|
|
|
|
|
P. de Lonlay-Debeney, F. Poggi-Travert, J.-C. Fournet, C. Sempoux, C. D. Vici, F. Brunelle, G. Touati, J. Rahier, C. Junien, C. Nihoul-Fekete, et al. Clinical Features of 52 Neonates with Hyperinsulinism N. Engl. J. Med., April 15, 1999; 340(15): 1169 - 1175. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L. Aguilar-Bryan and J. Bryan Molecular Biology of Adenosine Triphosphate-Sensitive Potassium Channels Endocr. Rev., April 1, 1999; 20(2): 101 - 135. [Abstract] [Full Text]
|
|
|
|
|
|
C. Jolly-Tornetta, Z.-y. Gao, V. M.-Y. Lee, and B. A. Wolf Regulation of Amyloid Precursor Protein Secretion by Glutamate Receptors in Human Ntera 2 Neurons (NT2N) J. Biol. Chem., May 29, 1998; 273(22): 14015 - 14021. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. A. Stanley, Y. K. Lieu, B. Y.L. Hsu, A. B. Burlina, C. R. Greenberg, N. J. Hopwood, K. Perlman, B. H. Rich, E. Zammarchi, and M. Poncz Hyperinsulinism and Hyperammonemia in Infants with Regulatory Mutations of the Glutamate Dehydrogenase Gene N. Engl. J. Med., May 7, 1998; 338(19): 1352 - 1357. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. Glaser, P. Kesavan, M. Heyman, E. Davis, A. Cuesta, A. Buchs, C. A. Stanley, P. S. Thornton, M. A. Permutt, F. M. Matschinsky, et al. Familial Hyperinsulinism Caused by an Activating Glucokinase Mutation N. Engl. J. Med., January 22, 1998; 338(4): 226 - 230. [Full Text] [PDF]
|
|
|
|
|
|
L. AGUILAR-BRYAN, J. P. CLEMENT IV, G. GONZALEZ, K. KUNJILWAR, A. BABENKO, and J. BRYAN Toward Understanding the Assembly and Structure of KATP Channels Physiol Rev, January 1, 1998; 78(1): 227 - 245. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
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|
|
|
|
|
|
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|
|