Insulin secretion and insulin sensitivity in diabetic and non-diabetic subjects with hepatic nuclear factor-1α (maturity-onset diabetes of the young-3) mutations

European Journal of Endocrinology

Volumn 141, Issue 6, 1999, Pages 609-618

  Vaxillaire, Martine ^a   Pueyo, Maria E ^c   Clément, Karine ^a   Fiet, Jean ^d   Timsit, José ^e   Philippe, Jacques ^f   Robert, Jean Jacques ^e   Tappy, Luc ^g   Froguel, Philippe ^a,b   Velho, Gilberto ^c  

^a INSTITUT PASTEUR DE LILLE   (France)

^b LILLE UNIVERSITY HOSPITAL   (France)

^c HÔPITAL SAINT VINCENT DE PAUL   (France)

^d SAINT LOUIS HOSPITAL   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^g UNIVERSITY OF LAUSANNE   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GLUCOSE; INSULIN; NUCLEAR FACTOR I;

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GLUCOSE TOLERANCE; HORMONAL REGULATION; HUMAN; HYPERGLYCEMIA; HYPERINSULINEMIA; INSULIN RELEASE; INSULIN RESISTANCE; INSULIN RESPONSE; INSULIN SENSITIVITY; MALE; MATURITY ONSET DIABETES MELLITUS; PANCREAS ISLET BETA CELL; PRIORITY JOURNAL;

EID: 0033382912     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.0.1410609     Document Type: Article

References (46)

1. Froguel P, Vaxillaire M & Velho G. Genetic and metabolic heterogeneity of maturity onset diabetes of the young. Diabetes Reviews 1997 5 123-130.
2. Yamagata K, Furuta H, Oda O, Kaisaki PJ, Menzel S, Cox NJ et al. Mutations in the hepatocyte nuclear factor 4 alpha gene in maturity-onset diabetes of the young (MODY1). Nature 1996 384 458-460.
3. Bulman MP, Dronsfield MJ, Frayling T, Appleton M, Bain SC, Ellard S et al. A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young. Diabetologia 1997 40 859-862.
4. Froguel P, Zouali H, Vionnet N, Velho G, Vaxillaire M, Sun F et al. Familial hyperglycemia due to mutations in glucokinase: definition of a subtype of diabetes mellitus. New England Journal of Medicine 1993 328 697-702.
5. Velho G, Blanché H, Vaxillaire M, Bellanné-Chantelot C, Pardini VC, Timsit J et al. Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. Diabetologia 1997 40 217-224.
6. Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M et al. Mutations in the hepatocyte nuclear factor 1 alpha gene in maturity-onset diabetes of the young (MODY3). Nature 1996 384 455-458.
7. Vaxillaire M, Rouard M, Yamagata K, Oda N, Kaisaki PJ, Boriraj VV et al. Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3). Human Molecular Genetics 1997 6 583-586.
8. Stoffers DA, Ferrer J. Clarke WL & Habener JF. Early-onset type 2 diabetes mellitus (MODY4) linked to IPFI. Nature Genetics 1997 17 138-139.
9. Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn BN et al. Mutation in hepatocyte nuclear factor-1β gene (TCF2) associated with MODY. Nature Genetics 1997 17 384-385.
10. Chévre JC, Hani EH, Boutin P, Vaxillaire M, Blanché H, Vionnet N et al. Mutation screening in 18 caucasian families suggests the existence of other MODY genes. Diabetologia 1998 41 1017-1023.
11. Byrne MM, Sturis J, Clément K, Vionnet N, Pueyo ME, Stoffel M et al. Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations. Journal of Clinical Investigation 1994 93 1120-1130.
12. Velho G, Froguel P, Clément K, Pueyo ME, Rakotoambinina B, Zouali H et al. Primary pancreatic beta-cell secretory defect caused by mutations in the glucokinase in kindreds of maturity onset diabetes of the young. Lancet 1992 340 444-448.
13. Velho G, Petersen KF, Perseghin G, Hwang J-H, Rothman DL, Pueyo ME et al. Impaired hepatic glycogen synthesis in glucokinase-delicient (MODY-2) subjects. Journal of Clinical Investigation 1996 98 1755-1761.
14. Fajans SS, Bell GI, Bowden DW, Halter JB & Polonsky KS. Maturity-onset diabetes of the young. Life Science 1994 55 413-422.
15. Velho G, Vaxillaire M, Boccio V, Charpentier G & Froguel P. Diabetes complications in NIDDM kindreds linked to the MODY-3 locus on chromosome 12q. Diabetes Care 1996 19 915-919.
16. Tronche F & Yaniv M. HNF1, a homeoprotein member of the hepatic transcription regulatory network. Bioessays 1992 14 579-587.
17. Emens LA, Landers DW & Moss LG. Hepatocyte nuclear factor 1α is expressed in a hamster insulinoma line and transactivates the rat insulin I gene. Proceedings of the National Academy of Sciences of the USA 1992 89 7300-7304.
18. Byrne MM, Sturis J, Menzel S, Yamagata K, Fajans SS, Dronsfield MJ et al. Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes mellitus susceptibility gene MODY on chromosome 12. Diabetes 1996 45 1503-1510.
19. Lehto M, Tuomi T, Mahtani MM, Widen E, Forsblom C, Sarelin L et al. Characterization of the MODY 3 phenotype-early-onset diabetes caused by an insulin secretion defect. Journal of Clinical Investigation 1997 99 582-591.
20. Froguel P, Velho G, Cohen D & Passa P. Strategies for the collection of sibling-pair data for genetic studies in type 2 (non insulin-dependent) diabetes mellitus. Diabetologia 1991 34 685.
21. WHO Study Group on Diabetes Mellitus. World Health Organization Technical Report Series 1985 No. 727.
22. Pueyo ME, Clement K, Vaxillaire M, Passa P, Froguel P, Robert JJ et al. Arginine-induced insulin release in glucokinase-deficient subjects. Diabetes Care 1994 17 1015-1021.
23. Leu(UUR) gene mutation. Diabetes 1996 45 478-487.
24. DeFronzo RA, Tobin JD & Andres R. Glucose clamp technique: a method for quantifying insulin secretion and resistance. American Journal of Physiology 1979 237 E214-E223.
25. Ward WK, Halter JB, Beard JC & Porte D Jr. Adaptation of B-and A-cell function during prolonged glucose infusion in human subjects. American Journal of Physiology 1984 246 E405-E411.
26. Stone LM, Kahn SE, Fujimoto WY, Deeb SS & Porte D. A variation at position -30 of the beta-cell glucokinase gene promoter is associated with reduced beta-cell function in middle-aged Japanese-American men. Diabetes 1996 45 422-428.
27. Philipps DIW, Clark PM, Hales CN & Osmod C. Understanding oral glucose tolerance: comparison of glucose or insulin measurements during the oral glucose tolerance test with specific measurements of insulin resistance and insulin secretion. Diabetic Medicine 1994 11 286-292.
28. Eaton RP, Allen RC, Schade DS, Erickson KM & Standefer J. Prehepatic insulin production in man: kinetic analysis using peripheral connecting peptide behavior. Journal of Clinical Endocrinology and Metabolism 1980 51 520-528.
29. Hovorka R. A computer program to reconstruct insulin secretion. Diabetologia 1993 36 (Suppl 1) A68.
30. Van Cauter E, Mestrez F, Sturis J & Polonsky KS. Estimation of insulin secretion rates from C-peptide levels. Comparison of individual and standard kinetic parameters for C-peptide clearance. Diabetes 1992 41 368-377.
31. Verdonk C, Rizza R & Gerich J. Effects of plasma glucose concentration on glucose utilization and glucose clearance in normal man. Diabetes 1981 30 535-537.
32. Mitrakou A, Vuorinen-Markkola H, Raptis G, Toft I, Mokan M, Strumph P et al. Simultaneous assessment of insulin secretion and insulin sensitivity using a hyperglycemic clamp. Journal of Clinical Endocrinology and Metabolism 1992 75 379-382.
33. Kramer CY. Extension of multiple range tests to group means with unequal number of replications. Biometrics 1956 12 309-310.
34. Pontoglio M, Sreenan S, Roe M, Pugh W, Ostrega D, Doyen A et al. Defective insulin secretion in hepatocyte nuclear factor 1-α deficient mice. Journal of Clinical Investigation 1998 101 2215-2222.
35. Pontoglio M, Barra J, Hadchouel M, Doyen A, Kress C, Poggi Bach J et al. Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome. Cell 1996 84 572-585.
36. Velho G, Benqué-Blanchet F, Vaxillaire M, Pontoglio M, Froguel P, Friedlander G et al. Renal proximal tubular defects associated to the MODY3 phenotype. Diabetologia 1998 41 (Suppl 1) A108.
37. Blachier F, Leclercq-Meyer V. Marchand J, Woussen-Colle MC, Mathias PCF, Sener A et al. Stimulus-secretion coupling of arginine-induced insulin release. Functional response of islets to L-arginine and ornithine. Biochimica et Biophysica Acta 1989 1013 144-151.
38. Ward WK, Wallum BJ, Beard JC, Taborsky GJ Jr & Porte D Jr. Reduction of glycemic potentiation. Sensitive indicator of b-cell loss in partially pancreatectomized dogs. Diabetes 1988 37 723-729.
39. Seaquist ER & Robertson RP. Effects of hemipancreatectomy on pancreatic alpha and beta cell function in healthy human donors. Journal of Clinical Investigation 1992 89 1761-1766.
40. Byrne MM, Sturis J, Fajans SS, Ortiz FJ, Stoltz A, Stoffel M et al. Altered insulin secretory responses to glucose in subjects with a mutation in the MODY1 gene on chromosome 20. Diabetes 1995 44 699-704.
41. Kuo CJ, Conley PB, Chen L, Sladek FM, Darnell JE & Crabtree GR. A transcriptional hierarchy is involved in mammalian cell-type specification. Nature 1992 355 457-461.
42. Hansen T, Eiberg H, Rouard M. Vaxillaire M, Moller AM, Rasmussen SK et al. Novel MODY3 mutations in the hepatocyte nuclear factor-1 alpha gene: evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose -tolerant carrier of a P447L mutation. Diabetes 1997 46 726-730.
43. Surmely JF, Guenat E, Philippe J, Dussoix P, Schneiter P, Temler E et al. Glucose utilization and production in patients with maturity-onset diabetes of the young caused by a mutation of the hepatocyte nuclear factor-1 alpha gene. Diabetes 1998 47 1459-1463.
44. Herman WH, Fajans SS, Ortiz FJ, Smith MJ, Sturis J. Bell GI et al. Abnormal insulin secretion, not insulin resistance, is the genetic or primary defect of mody in the RW pedigree. Diabetes 1994 43 40-46.
45. Polonsky KS, Sturis J & Bell GI. Non-insulin-dependent diabetes mellitus: a genetically programmed failure of the beta cell to compensate for insulin resistance. New England Journal of Medicine 1996 334 777-783.
46. Clément K, Pueyo ME, Vaxillaire M, Rakotoambinina B. Thuillier F, Passa P et al. Assessment of insulin sensitivity in glucokinase-deficient subjects. Diabetologia 1996 39 82-90.