Carriers of an inactivating β-cell ATP-sensitive K+ channel mutation have normal glucose tolerance and insulin sensitivity and appropriate insulin secretion

Diabetes Care

Volumn 25, Issue 1, 2002, Pages 101-106

  Huopio, Hanna ^a   Vauhkonen, Ilkka ^a   Komulainen, Jorma ^a   Niskanen, Leo ^a   Otonkoski, Timo ^b,c   Laakso, Markku ^a,d  

^a UNIVERSITY OF EASTERN FINLAND   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c UNIVERSITY OF HELSINKI   (Finland)

^d KUOPIO UNIVERSITY HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; C PEPTIDE; POTASSIUM CHANNEL; SULFONYLUREA RECEPTOR; TOLBUTAMIDE; ABC TRANSPORTER; ANTIDIABETIC AGENT; DRUG RECEPTOR; INSULIN; INWARDLY RECTIFYING POTASSIUM CHANNEL;

ARTICLE; B LYMPHOCYTE; CHROMOSOME SUBSTITUTION; CLINICAL ARTICLE; CONTROLLED STUDY; GENE INACTIVATION; GENE MUTATION; GLUCOSE METABOLISM; GLUCOSE TOLERANCE; GLUCOSE TOLERANCE TEST; GLUCOSE TRANSPORT; HEMOSTASIS; HETEROZYGOTE; HUMAN; HYPERGLYCEMIA; HYPERINSULINEMIA; HYPOGLYCEMIA; IN VIVO STUDY; INSULIN RELEASE; INSULIN SENSITIVITY; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; ADULT; AMINO ACID SUBSTITUTION; BLOOD; FEMALE; GENETICS; HETEROZYGOTE DETECTION; HYPERINSULINISM; MALE; MISSENSE MUTATION; PANCREAS ISLET; PHYSIOLOGY; SECRETION;

ADULT; AMINO ACID SUBSTITUTION; ATP-BINDING CASSETTE TRANSPORTERS; C-PEPTIDE; FEMALE; GLUCOSE TOLERANCE TEST; HETEROZYGOTE DETECTION; HUMANS; HYPERINSULINISM; HYPOGLYCEMIC AGENTS; INSULIN; ISLETS OF LANGERHANS; MALE; MUTATION, MISSENSE; POTASSIUM CHANNELS; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RECEPTORS, DRUG; TOLBUTAMIDE;

EID: 0036361985     PISSN: 01495992     EISSN: None     Source Type: Journal    
DOI: 10.2337/diacare.25.1.101     Document Type: Article

References (28)

1. Aguilar-Bryan L, Bryan J: Molecular biology of adenosine triphosphate-sensitive potassium channels. Endocr Rev 20:101-135, 1999
2. Ashcroft FM, Gribble FM: ATP-sensitive K+ channels and insulin secretion: their role in health and disease. Diabetologia 42:903-919, 1999
3. 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
4. Dunne MJ, Kane C, Shepherd RM, Sanchez JA, James RF, Johnson PR, Aynsley-Green A, Lu S, Clement JP, Lindley KJ, Seino S, Aguilar-Bryan L: Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor. N Engl J Med 336:703-706, 1997
5. Thomas PM, Cote GJ, Wohllk N, Mathew PM, Gagel RF: The molecular basis for familial persistent hyperinsulinemic hypoglycemia of infancy. Proc Assoc Am Physicians 108:14-19, 1996
6. Sperling M, Drash A: Evolution of diabetes mellitus from hypoglycemia. Am J Dis Child 121:5-9, 1971
7. Rosenbloom AL, Sherman L: The natural history of idiopathic hypoglycemia of infancy and its relation to diabetes mellitus. N Engl J Med 274:815-820, 1966
8. Glaser B, Landau H, Permutt MA: Neonatal hyperinsulinism. Trends Endocrinol Metab 10:55-61, 1999
9. Otonkoski T, Ammala C, Huopio H Cote GJ, Chapman J, Cosgrove K, Ashfield R, Huang E, Komulainen J, Ashcroft FM, Dunne MJ, Kere J, Thomas PM: A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. Diabetes 48:408-415, 1999
10. Lehto M, Tuomi T, Mahtani MM, Widen E, Forsblom C, Sarelin L, Gullström M, Isomaa B, Lehtovirta M, Hyrkkö A, Kanninen T, Orho M, Manley S, Turner RC, Brettin T, Kirby A, Thomas J, Duyk G, Lander E, Taskinen MR, Groop L: Characterization of the MODY 3 phenotype: early-onset diabetes caused by an insulin secretion defect. J Clin Invest 99:582-591, 1997
11. DeFronzo RA, Tobin JD, Andres R: Glucose clamp technique: a method for quantifying insulin secretion and resistance. Am J Physiol 237:E214-E223, 1979
12. Mitrakou A, Ryan C, Veneman T, Mokan M, Jenssen T, Kiss I, Durrant J, Cryer P, Gerich J: Hierarchy of glycemic thresholds for counterregulatory hormone secretion, symptoms, and cerebral dysfunction. Am J Physiol 260:E67-E74, 1991
13. Meneilly GS, Cheung E, Tuokko H: Counterregulatory hormone responses to hypoglycemia in the elderly patient with diabetes. Diabetes 43:403-410, 1994
14. Schwartz NS, Clutter WE, Shah SD, Cryer PE: Glycemic thresholds for activation of glucose counterregulatory systems are higher than the threshold for symptoms. J Clin Invest 79:777-781, 1987
15. Saad MF, Steil GM, Kades WW, Ayad MF, Elsewafy WA, Boyadjian R, Jinagouda SD, Bergman RN: Differences between the tolbutamide-boosted and the insulin-modified minimal model protocols. Diabetes 46:1167-1171, 1997
16. World Health Organization: Diabetes Mellitus: Report of a WHO Study Group. Geneva, World Health Org., 1985 (Tech. Rep. Ser., no. 727), p. 10-11
17. Aynsley-Green A, Hussain K, Hall J, Saudybray JM, Nihoul-Fekete C, De Lonlay-Debeney P, Brunelle F, Otonkoski T, Thornton P, Lindley KJ: Practical management of hyperinsulinism in infancy. Arch Dis Child 82:F98-F107, 2000
18. Glaser B, Thornton P, Otonkoski T, Junien C: Genetics of neonatal hyperinsulinism. Arch Dis Child 82:F79-F86, 2000
19. Markworth E, Schwanstecher C, Schwanstecher M: ATP4-mediates closure of pancreatic beta-cell ATP-sensitive potassium channels by interaction with 1 of 4 identical sites. Diabetes 49:1413-1418, 2000
20. ATP channel. Proc Natl Acad Sci U S A 94:11969-11973, 1997
21. Glaser B, Ryan F, Donath M, Landau H, Stanley CA, Baker L, Barton DE, Thornton P: Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene. Diabetes 48:1652-1657, 1999
22. Kassem SA, Ariel I, Thornton PS, Scheimberg I, Glaser B: Beta-cell proliferation and apoptosis in the developing normal human pancreas and in hyperinsulinism of infancy. Diabetes 49:1325-1333, 2000
23. Hansen T, Echwald SM, Hansen L, Moller AM, Almind K, Clausen JO, Urhammer SA, Inoue H, Ferrer J, Bryan J, Aguilar-Bryan L, Permutt MA, Pedersen O: Decreased tolbutamide-stimulated insulin secretion in healthy subjects with sequence variants in the high-affinity sulfonylurea receptor gene. Diabetes 47:598-605, 1998
24. Vialettes B, Mattei-Zevaco C, Badier C, Ramahandridona G, Lassmann-Vague V, Vague P: Low acute insulin response to intravenous glucose: a sensitive but non-specific marker of early stages of type 1 (insulin-dependent) diabetes. Diabetologia 31:592-596, 1988
25. Pimenta W, Korytkowski M, Mitrakou A: Pancreatic beta-cell dysfunction as the primary genetic lesion in NIDDM: evidence from studies in normal glucose-tolerant individuals with a first-degree NIDDM relative. JAMA 273:1855-1861, 1995
26. Vauhkonen I, Niskanen L, Knip M, Ilonen J, Vanninen E, Kainulainen S, Uusitupa M, Laakso M: Impaired insulin secretion in non-diabetic offspring of probands with latent autoimmune diabetes mellitus in adults. Diabetologia 43:69-78, 2000
27. Cryer PE: Human insulin and hypoglycemia unawareness (Letter). Diabetes Care 13:536-538, 1990
28. Shyng SL, Ferrigni T, Shepard JB, Nestorowicz A, Glaser B, Permutt MA, Nichols CG: Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy. Diabetes 47:1145-1151, 1998