Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations

Physiological Research

Volumn 57, Issue SUPPL. 1, 2008, Pages

  Lukasova P ^a   Vcelak J ^a   Vankova M ^a   Vejrazkova D ^a   Andelova K ^b   Bendlova B ^a  

^a INSTITUTE OF ENDOCRINOLOGY   (Czech Republic)

^b INSTITUTE FOR THE CARE OF MOTHER AND CHILD   (Czech Republic)

Author keywords

Diabetes mellitus type 2; Gestational diabetes; Glucokinase (GCK); MODY2; Mutation; Polymorphism

Indexed keywords

GLUCOKINASE;

ADULT; AGED; ARTICLE; CZECH REPUBLIC; EXON; FEMALE; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; GENETICS; HUMAN; INTRON; MALE; MIDDLE AGED; MUTATION; NON INSULIN DEPENDENT DIABETES MELLITUS; PREGNANCY; PREGNANCY DIABETES MELLITUS; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; AGED; CZECH REPUBLIC; DIABETES MELLITUS, TYPE 2; DIABETES, GESTATIONAL; EXONS; FEMALE; GENETIC SCREENING; GLUCOKINASE; HUMANS; INTRONS; MALE; MIDDLE AGED; MUTATION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PREGNANCY; VARIATION (GENETICS);

EID: 45849135581     PISSN: 08628408     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (27)

1. BARRIO R, BELLANNÉ-CHANTELOT C, MORENO JC, MOREL V, CALLE H, ALONSO M, MUSTIELES C.: Nine novel mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families. J Clin Endocrinol Metab 87: 2532-2539, 2002.
2. BYRNE MM, STURIS J, CLEMENT K, VIONNET N, PUEYO ME, STOFFEL M, TAKEDA J, PASSA P, COHEN D, BELL GI ET AL.: Insulin secretory abnormalities in subjects with hyperglycemia due glucokinase mutations. J Clin Invest 93: 1120-1130, 1994.
3. COSTA A, BESCOS M, VELHO G, CHEVRE J, VIDAL J, SESMILO G, BELLANNE-CHANTELOT C, FROGUEL P, CASAMITJANA R, RIVERA-FILLAT F, GOMIS R, CONGET I.: Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families. Eur J Endocrinol 142: 380-386, 2000.
4. ELLARD S, BEARDS F, ALLEN LIS, SHEPHERD M, BALLANTYNE E, HARVEY R, HATTERSLEY AT: A high prevalence of glucokinase mutation in gestational diabetic subjects selected by clinical criteria. Diabetologia 43: 250-253, 2000.
5. FAJANS SS, BELL GI, POLONSKY KS: Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med 345: 971-980, 2001.
6. FORSYTH L, HUME R, HOWATSON A, BUSUTTIL A, BURCHELL A: Identification of novel polymorphisms in the glucokinase and glucose-6-phosphatase genes in infants who died suddenly and unexpectedly. J Mol Med 83: 610-618, 2005.
7. FROGUEL P, ZOUALI H, VIONNET N, VELHO G, VAXILLAIRE M, SUN F, LESAGE S, STOFFEL M, TAKEDA J, PASSA P, PERMUTT MA, BECKMANN JS, BELL GI, COHEN D: Familial hyperglycemia due to mutations in glucokinase - definition of a subtype of diabetes mellitus. N Engl J Med 328: 697-702, 1993.
8. GLOYN AL: Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy. Hum Mutat 22: 353-362, 2003.
9. GRAGNOLI C, COCKBURN BN, CHIARAMONTE F, GORINI A, MARIETTI G, MAROZZI G, SIGNORINI AM: Early-onset Type II diabetes mellitus in Italian families due to mutations in the genes encoding hepatic nuclear factor 1 alpha and glucokinase. Diabetologia 44: 1326-1329, 2001.
10. HATTERSLEY AT: Molecular genetics goes to the diabetes clinic. Clin Med 5: 476-481, 2005.
11. JOHANSEN A, EK J, MORTENSEN HB, PEDERSEN O, HANSEN T: Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1. J Clin Endocrinol Metab 90: 4607-4614, 2005.
12. LAAKSO M, MALKKI M, KEKALAINEN P, KUUSISTO J, MYKKANEN L, DEEB SS: Glucokinase gene variants in subjects with late-onset NIDDM and impaired glucose tolerance. Diabetes Care 18: 398-400, 1995.
13. LEDERMANN HM: Is maturity onset diabetes of the young age (MODY) more common in Europe than previously assumed? Lancet 345: 648, 1995.
14. LEHTO M, WIPEMO C, IVARSSON SA, LINDGREN C, LIPSANEN-NYMAN M, WENG J, WIBELL L, WIDEN E, TUOMI T, GROOP L: High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes. Diabetologia 42: 1131-1137, 1999.
15. LINDNER TH, COCKBURN BN, BELL GI: Molecular genetics of MODY in Germany. Diabetologia 42: 121-123, 1999.
16. MANTOVANI V, SALARDI S, CERRETA V, BASTIA D, CENCI M, RAGNI L, ZUCCHINI S, PARENTE R, CICOGNANI A: Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young. Hum Mutat 22: 338, 2003.
17. MASSA O, MESCHI F, CUESTA-MUNOZ A, CAUMO A, CERUTTI F, TONI S, CHERUBINI V, GUAZZAROTTI L, SULLI N, MATSCHINSKY FM, LORINI R, IAFUSCO D, BARBETTI F: High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI. Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetes (SIEDP). Diabetologia 44: 898-905, 2001.
18. MATSCHINSKY FM, LIANG Y, KESAVAN P, WANG L, FROGUEL P, VELHO G, COHEN D, PERMUTT MA, TANIZAWA Y, JETTON TL, NISWENDER K, MAGNUSON MA: Glucokinase as pancreatic beta cell glucose sensor and diabetes gene. J Clin Invest 92: 2092-2098, 1993.
19. MATSUDA M, DEFRONZO RA: Insulin sensitivity indices obtained from oral glucose tolerance testing: comparison with the euglycemic insulin clamp. Diabetes Care 22:1462-1470, 1999.
20. MATTHEWS DR, HOSKER JP, RUDENSKI AS, NAYLOR BA, TREACHER DF, TURNER RC: Homeostasis model assessment: insulin resistance and beta-cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia 28:412-419, 1985.
21. OWEN K, HATTERSLEY AT: Maturity-onset diabetes of the young: From clinical description to molecular genetic characterization. Best Pract Res Clin Endocrinol Metab 15: 309-323, 2001.
22. PRŮHOVÁ S, EK J, LEBL J, ŠUMNÍK Z, SAUDEK F, ANDĚL M, PEDERSEN O, HANSEN T: Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha. Diabetologia 46: 291-295, 2003.
23. SCHUIT FC, HUYPENS P, HEIMBERG H, PIPELEERS DG: Glucose sensing in pancreatic beta-cells: a model for the study of other glucose-regulated cells in gut, pancreas, and hypothalamus. Diabetes 50: 1-11, 2001.
24. STOFFEL M, FROGUEL P, TAKEDA J, ZOUALI H, VIONNET N, NISHI S, WEBER IT, HARRISON RW, PILKIS SJ, LESAGE S, VAXILLAIRE M, VELHO G, SUN F, IRIS F, PASSA P, COHEN D, BELL GI: Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus. Proc Natl Acad Sci USA 89: 7698-7702, 1992.
25. THOMSON KL, GLOYN AL, COLCLOUGH K, BATTEN M, ALLEN LI, BEARDS F, HATTERSLEY AT, ELLARD S: European Caucasians with maturity-onset diabetes of the young (MODY). Hum Mutat 22: 417, 2003.
26. VELHO G, BLANCHE H, VAXILLAIRE M, BELLANNE-CHANTELOT C, PARDINI VC, TIMSIT J, PASSA P, DESCHAMPS I, ROBERT JJ, WEBER IT, MAROTTA D, PILKIS SJ, LIPKIND GM, BELL GI, FROGUEL P: Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. Diabetologia 40: 217-224, 1997.
27. ZOUALI H, VAXILLAIRE M, LESAGE S, SUN F, VELHO G, VIONNET N, CHIU K, PASSA P, PERMUTT A, DEMENAIS F, COHEN D, BECKMAN JS, FROGUEL P: Linkage analysis and molecular scanning of glucokinase gene in NIDDM families. Diabetes 42: 1238-1245, 1993.