Genetic cause of hyperglycaemia and response to treatment in diabetes

Lancet

Volumn 362, Issue 9392, 2003, Pages 1275-1281

  Pearson, Ewan R ^a   Starkey, Bryan J ^b   Powell, Roy J ^c   Gribble, Fiona M ^d   Clark, Penny M ^e   Hattersley, Andrew T ^a  

^a PENINSULA MEDICAL SCHOOL   (United Kingdom)

^b ROYAL SURREY COUNTY HOSPITAL   (United Kingdom)

^c ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

^d ADDENBROOKE S HOSPITAL   (United Kingdom)

^e UNIVERSITY HOSPITALS BIRMINGHAM NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIDIABETIC AGENT; BIGUANIDE; FRUCTOSAMINE; GLICLAZIDE; GLUCOSE; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; INSULIN; METFORMIN; NUCLEAR FACTOR I; SULFONYLUREA; TOLBUTAMIDE; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; BODY MASS; CLINICAL ARTICLE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; CROSSOVER PROCEDURE; DIET RESTRICTION; DOSE RESPONSE; DRUG CLEARANCE; DRUG ELIMINATION; DRUG MEGADOSE; DRUG METABOLISM; DRUG SENSITIVITY; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; GLUCOSE BLOOD LEVEL; HEART INFARCTION; HUMAN; HYPERGLYCEMIA; HYPOGLYCEMIA; INSULIN RELEASE; INSULIN SENSITIVITY; MALE; MATURITY ONSET DIABETES MELLITUS; MIGRAINE; NON INSULIN DEPENDENT DIABETES MELLITUS; PRIORITY JOURNAL; RANDOMIZED CONTROLLED TRIAL; TREATMENT OUTCOME;

EID: 0142186278     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(03)14571-0     Document Type: Article

References (34)

1. Amos A.F., McCarty D.J., Zimmet P. The rising global burden of diabetes and its complications: estimates and projections to the year 2010. Diabet Med. 14:(suppl):1997;S7-S85.
2. Johansen K. Efficacy of metformin in the treatment of NIDDM: meta-analysis. Diabetes Care. 22:1999;33-37.
3. Report of a WHO consultation: part 1: diagnosis and classification of diabetes mellitus. 1999;World Health Organization, Geneva.
4. Stride A., Hattersley A.T. Different genes, different diabetes: lessons from maturity-onset diabetes of the young. Ann Med. 34:2002;207-216.
5. Frayling T.M., Evans J.C., Bulman M.P., et al. Beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors. Diabetes. 50:(suppl):2001;S94-S100.
6. Heiervang E., Folling I., Sovik O., et al. Maturity-onset diabetes of the young: studies in a Norwegian family. Acta Paediatr Scand. 78:1989;74-80.
7. Sovik O., Njolstad P., Folling I., Sagen J., Cockburn B.N., Bell G.I. Hyperexcitability to sulphonylurea in MODY3. Diabetologia. 41:1998;607-608.
8. Hathout E.H., Cockburn B.N., Mace J.W., Sharkey J., Chen-Daniel J., Bell G.I. A case of hepatocyte nuclear factor-1 alpha diabetes/MODY3 masquerading as type 1 diabetes in a Mexican-American adolescent and responsive to a low dose of sulphonylurea. Diabetes Care. 22:1999;867-868.
9. Pearson E.R., Liddell W.G., Shepherd M., Corrall R.J., Hattersley A.T. Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor 1 alpha gene mutations: evidence for pharmacogenetics in diabetes. Diabet Med. 17:2000;543-545.
10. Hansen T., Eiberg H., Rouard M., et al. Novel MODY3 mutations in the hepatic nuclear factor-1α gene: evidence for a hyperexcitability of pancreatic B-cells to intravenous secretagogues in a glucose tolerant carrier of a P447L mutation. Diabetes. 46:1997;726-730.
11. Starkey B, Hattersley A, Pearson E. Measurement of tolbutamide by HPLC: its application to an investigation of sulphonylurea metabolism in HNF1alpha diabetes. Association of Clinical Biochemists National Meeting, 2002: 70-71.
12. Sweetman S.S. Martindale. The complete drug reference. 33rd edn :2002;Pharmaceutical Press, London.
13. Scott J., Poffenbarger P.L. Pharmacogenetics of tolbutamide metabolism in humans. Diabetes. 28:1979;41-51.
14. Matthews D.R., Hosker J.P., Rudenski A.S., Naylor B.A., Treacher D.F., Turner R.C. Homeostatsis model assessment (HOMA): Insulin resistance and β-cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia. 28:1985;412-419.
15. Levy J.C., Matthews D.R., Hermans M.P. Correct homeostasis model assessment (HOMA) evaluation uses the computer program. Diabetes Care. 21:1998;2191-2192.
16. Hermans M.P., Levy J.C., Morris R.J., Turner R.C. Comparison of insulin sensitivity tests across a range of glucose tolerance from normal to diabetes. Diabetologia. 42:1999;678-687.
17. UK Prospective Diabetes Study (UKPDS) 13: relative efficacy of randomly allocated diet, sulphonylurea, insulin, or metformin in patients with newly diagnosed non-insulin dependent diabetes followed for three years. BMJ. 310:1995;83-88.
18. Moher D., Schulz K.F., Altman D. The CONSORT statement: revised recommendations for improving the quality of reports of parallel-group randomized trials. JAMA. 285:2001;1987-1991.
19. Altman D.G., Schulz K.F., Moher D., et al. The revised CONSORT statement for reporting randomized trials: explanation and elaboration. Ann Intern Med. 134:2001;663-694.
20. Hom F. Fructosamine, hemoglobin A1c, and measures of diabetic control. Diabetes Technol Ther. 1:1999;443-445.
21. Kahn S.E., Prigeon R.L., McCulloch D.K., et al. Quantification of the relationship between insulin sensitivity and beta-cell function in human subjects: evidence for a hyperbolic function. Diabetes. 42:1993;1663-1672.
22. Bergman R.N., Ader M., Huecking K., Van Citters G. Accurate assessment of beta-cell function: the hyperbolic correction. Diabetes. 51:(suppl): 2002;S212-S220.
23. Byrne M.M., Sturis J., Menzel S., et al. Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12. Diabetes. 45:1996;1503-1510.
24. Lehto M., Tuomi T., Mahtani M.M., et al. Characterization of the MODY3 phenotype: early-onset diabetes caused by an insulin secretion defect. J Clin Invest. 99:1997;582-591.
25. Pontoglio M., Sreenan S., Roe M., et al. Defective insulin secretion in hepatocyte nuclear factor 1alpha-deficient mice. J Clin Invest. 101:1998;2215-2222.
26. Dukes I.D., Sreenan S., Roe M.W., et al. Defective pancreatic beta-cell glycolytic signaling in hepatocyte nuclear factor-1alpha-deficient mice. J Biol Chem. 273:1998;24457-24464.
27. Wang H., Maechler P., Hagenfeldt K.A., Wollheim C.B. Dominant-negative suppression of HNF-1alpha function results in defective insulin gene transcription and impaired metabolism-secretion coupling in a pancreatic beta-cell line. EMBO J. 17:1998;6701-6713.
28. Wang H., Antinozzi P.A., Hagenfeldt K.A., Maechler P., Wollheim C.B. Molecular targets of a human HNF1 alpha mutation responsible for pancreatic beta-cell dysfunction. Embo J. 19:2000;4257-4264.
29. Shih D.Q., Screenan S., Munoz K.N., et al. Loss of HNF-1alpha function in mice leads to abnormal expression of genes involved in pancreatic islet development and metabolism. Diabetes. 50:2001;2472-2480.
30. Boileau P., Wolfrum C., Shih D.Q., Yang T.A., Wolkoff A.W., Stoffel M. Decreased glibenclamide uptake in hepatocytes of hepatocyte nuclear factor-1alpha-deficient mice: a mechanism for hypersensitivity to sulfonylurea therapy in patients with maturity-onset diabetes of the young, type 3 (MODY3). Diabetes. 51:(suppl):2002;S343-S348.
31. Yamagata K., Nammo T., Moriwaki M., et al. Overexpression of dominant-negative mutant hepatocyte nuclear factor-1 alpha in pancreatic beta-cells causes abnormal islet architecture with decreased expression of E-cadherin, reduced beta-cell proliferation, and diabetes. Diabetes. 51:2002;114-123.
32. Yang Q., Yamagata K., Fukui K., et al. Hepatocyte nuclear factor-1 alpha modulates pancreatic beta-cell growth by regulating the expression of insulin-like growth factor-1 in INS-1 cells. Diabetes. 51:2002;1785-1792.
33. Wobser H., Dumann H., Kogel D., et al. Dominant-negative suppression of HNF-1 alpha results in mitochondrial dysfunction, INS-1 cell apoptosis, and increased sensitivity to ceramide-, but not to high glucose-induced cell death. J Biol Chem. 277:2002;6413-6421.
34. Tripathy D., Carlsson A.L., Lehto M., Isomaa B., Tuomi T., Groop L. Insulin secretion and insulin sensitivity in diabetic subgroups: studies in the prediabetic and diabetic state. Diabetologia. 43:2000;1476-1483.