A missense mutation, Val62Ala, in the glucokinase gene in a Norwegian family with maturity-onset diabetes of the young

Acta Paediatrica, International Journal of Paediatrics

Volumn 87, Issue 8, 1998, Pages 853-856

  Njolstad P R ^a   Cockburn, B N ^b   Bell, G I ^b   Sovik O ^a  

^a HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF CHICAGO   (United States)

Author keywords

Diabetes mellitus; Glucokinase; Insulin; MODY; Mutation

Indexed keywords

ALANINE; CREATININE; CYTOSINE; GLUCOKINASE; GLUCOSE; GLYCOLYTIC ENZYME; HEMOGLOBIN A1C; INSULIN; LIPID; NUCLEAR FACTOR I; SULFONYLUREA; THYMINE; TRANSCRIPTION FACTOR; VALINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTONOMIC NEUROPATHY; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CONTROLLED STUDY; DIET THERAPY; FEMALE; HUMAN; MALE; MATURITY ONSET DIABETES MELLITUS; MISSENSE MUTATION; NEWBORN; NORWAY; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SENSORIMOTOR NEUROPATHY;

ADULT; AGED; AGED, 80 AND OVER; ALLELES; CHILD; CHILD, PRESCHOOL; CODON; DIABETES MELLITUS, TYPE 2; FEMALE; GLUCOKINASE; HUMANS; HYPERGLYCEMIA; MALE; MIDDLE AGED; MUTATION, MISSENSE; NORWAY; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 0031679458     PISSN: 08035253     EISSN: None     Source Type: Journal    
DOI: 10.1080/080352598750013626     Document Type: Article

References (27)

1. The Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. Report of the expert committee on the diagnosis and classification of diabetes mellitus. Diabetes Care 1997; 20: 1183-97
2. Fajans SS. Scope and heterogenous nature of MODY. Diabetes Care 1990; 13: 49-64
3. 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 susceptibility gene MODY3 on chromosome 12. Diabetes 1996; 45: 1503-10
4. Ledermann HM. Is maturity-onset diabetes at young age (MODY) more common in Europe than previously assumed? Lancet 1995; 345: 648
5. Tattersall RB. Mild familial diabetes with dominant inheritance. Q J Med 1974; 43: 339-57
6. Heiervang E, Følling I, Søvik O, Sandnes T, Myrmæl T, Moen, T, et al. Maturity-onset diabetes of the young: Studies in a Norwegian family. Acta Paediatr Scand 1989; 78: 74-80
7. Velho G, Vaxillaire M, Boccio V, Charpentier G, Froguel P. Diabetes complications in NIDDM kindreds linked to the MODY3 locus on chromosome 12q. Diabetes Care 1996; 19: 915-9
8. 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. N Engl J Med 1993; 328: 697-702
9. Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M, et al. Mutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young (MODY3). Nature 1996; 384: 455-8
10. Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn BN, et al. Mutation in the hepatocyte nuclear factor-1β gene (TCF2) associated with maturity-onset diabetes of the young. Nature Genet 1997; 17: 384-5
11. Yamagata K, Furuta H, Oda N, Kaisaki PJ, Menzel S, Cox NJ, et al. Mutations in the hepatocyte nuclear factor-4α gene in maturity-onset diabetes of the young (MODY1). Nature 1996; 384: 458-60
12. Stoffers DA, Ferrer J, Clarke WL, Habener JF. Early-onset type 2 diabetes mellitus (MODY4) linked to IPF-1. Nature Genet 1997; 17: 4-5
13. Polonsky KS. The β-cell in diabetes: From molecular genetics to clinical research. Diabetes 1995; 44: 705-17
14. WHO Expert Committee on Diabetes Mellitus: Second report. WHO Tech Rep Ser 1980; 646: 1-80
15. Anonymous. Reference (normal) values. In: Meites S, editor. Pediatric clinical chemistry. 3rd edn. Washington DC: Clinical Chemistry, 1989
16. Kaisaki PJ, Menzel S, Lindner T, Oda N, Rjasanowksi I, Sahn J, et al. Mutations in the hepatocyte nuclear factor-1α gene in MODY and early-onset NIDDM. Evidence for a mutational hotspot in exon 4. Diabetes 1997; 46: 528-35
17. Stoffel M, Froguel P, Takeda J, Zouali H, Vionnet N, Nishi S, et al. 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 1992; 89: 7698-702
18. Velho G, Blanche H, Vaxillaire M, Bellanne-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: 217-24
19. Hansen T, Eiberg H, Rouard M, Vaxillaire M, Møller AM, Rasmussen SK, et al. Novel MODY3 mutations in the hepatocyte nuclear factor-1α gene. Diabetes 1997; 46: 726-30
20. Glucksmann MA, Lehto M, Tayber O, Scotti S, Berkemeier L, Pulido C, et al. Novel mutations and a mutational hotspot in the MODY3 gene. Diabetes 1997; 46: 1081-6
21. Fraling TM, Bulman MP, Ellard S, Appleton M, Dronsfield MJ, Mackie ADR, et al. Mutations in the hepatocyte nuclear factor-1α gene are a common cause of maturity-onset diabetes of the young in the U.K. Diabetes 1997; 46: 720-5
22. Iwasaki N, Oda N, Ogata M, Hara M, Hinokio Y, Oda Y, et al. Mutations in the hepatocyte nuclear factor-1α/MODY3 gene in Japanese subjects with early-and late-onset NIDDM. Diabetes 1997; 46: 1504-8
23. Wajngot A, Alvarsson M, Glaser A, Efendic S, Luthman H, Grill V. Glucose potentiation of arginine-induced insulin secretion is impaired in subjects with a glucokinase Glu256Lys mutation. Diabetes 1994; 43: 1402-6
24. Byrne MM, Sturis J, Clement K, Vionnet N, Pueyo ME, Stoffel M, et al. Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations. J Clin Invest 1994; 93: 1120-30
25. Velho G, Petersen KF, Perseghin G, Hwang JH, Rothman DL, Pueyo ME, et al. Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY2) subjects. J Clin Invest 1996; 98: 1755-61
26. Veiga-da-Cunha M, Courtois S, Michel A, Grosselain E, Van Schaftingen E. Amino acid conservation in animal glucokinases: Identification of residues implicated in the interaction with the regulatory protein. J Biol Chem 1996; 271: 6292-7
27. Hughes SD, Quaade C, Milburn JL, Cassidy L, Newgard CB. Expression of normal and novel glucokinase mRNAs in anterior pituitary and islets cells. J Biol Chem 1991; 266: 4521-30