Familial hyperinsulinism caused by an activating glucokinase mutation

New England Journal of Medicine

Volumn 338, Issue 4, 1998, Pages 226-230

  Glaser, Benjamin ^a,g   Kesavan, Prebakaran ^b   Heyman, Mozhgan ^a   Davis, Elizabeth ^b   Cuesta, Antonio ^b   Buchs, Andreas ^a   Stanley, Charles A ^c   Thornton, Paul S ^d   Permutt, M Alan ^e   Matschinsky, Franz M ^b   Herold, Kevan C ^f  

^a HEBREW UNIVERSITY   (Israel)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d Children's University Hospital   (Ireland)

^e WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^g HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOKINASE; INSULIN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL ARTICLE; ENZYME ACTIVITY; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC LINKAGE; HORMONAL REGULATION; HUMAN; HYPERINSULINISM; INSULIN RELEASE; MALE; PANCREAS ISLET BETA CELL; PATHOGENESIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL;

ADULT; BASE SEQUENCE; GENES, DOMINANT; GLUCOKINASE; GLUCOSE; HUMANS; HYPERINSULINISM; INSULIN; MALE; MUTATION; PEDIGREE;

EID: 0032556969     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199801223380404     Document Type: Article

References (30)

1. Stanley CA, Baker L. Hyperinsulinism in infants and children: diagnosis and therapy. Adv Pediatr 1976;23:315-55.
2. Thomas PM, Cote GJ, VVohllk N, et al. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science 1995;268:426-9.
3. Nestorowicz A, Wilson BA, Schoor KP, et al. Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Hum Mol Genet 1996;5:1813-22.
4. Nichols CG, Shyng S-L, Nestorowicz A, et al. Adenosine diphosphate as an intracellular regulator of insulin secretion. Science 1996;272:1785-7.
5. Thomas P, Ye Y, Lightner E. Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Hum Mol Genet 1996;5:1809-12.
6. Thomas PM, Wohllk N, Huang E, et al. Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy. Am J Hum Genet 1996;59: 510-8.
7. Nestorowicz A, Inagaki N, Gonoi T, et al. A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism. Diabetes 1997;46:1743-8.
8. Zammarchi E, Filippi L, Novembre E, Donati MA. Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia. Metabolism 1996;45:957-60.
9. Weinzimer SA, Stanley CA, Berry GT, Yudkoff M, Tuchman M, Thornton PS. A syndrome of congenital hyperinsulinism and hyperammonemia. J Pediatr 1997;130:661-4.
10. Stanley CA, Lieu Y, Hsu B, Poncz M. Hypoglycemia in infants with hyperinsulinism & hyperammonemia: gain of function mutations in the pathway of leucine-mediated insulin secretion. Diabetes 1997;46:Suppl 1: 217A. abstract.
11. Kukuvitis A, Deal C, Arbour L, Polychronakos C. An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor locus. J Clin Endocrinol Metab 1997;82:1192-4.
12. Thornton PS, Satin-Smith MS, Herold K, et al. Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant. J Pediatr (in press).
13. Matschinsky F, Liang Y, Kesavan P, et al. Glucokinase as pancreatic beta cell glucose sensor and diabetes gene. J Clin Invest 1993;92:2092-8.
14. Froguel P, Zouali H, Vionnet N, et al. Familial hyperglycemia due to mutations in glucokinase: definition of a subtype of diabetes mellitus. N Engl J Med 1993;328:697-702.
15. Froguel P, Vaxillaire M, Velho G. Genetic and metabolic heterogeneity of maturity-onset diabetes of the young. Diabetes Rev 1997;5:123-30.
16. Liang Y, Kesavan P, Wang LQ, et al. Variable effects of maturity-onset-diabetes-of-youth (MODY)-associated glucokinase mutations on substrate interactions and stability of the enzyme. Biochem J 1995;309:167-73.
17. Polonsky KS, Herold KC, Gilden JL, et al. Glucose counterregulation in patients after pancreatectomy: comparison with other clinical forms of diabetes. Diabetes 1984;33:1112-9.
18. Polonsky KS, Given BD, Hirsch L, et al. Quantitative study of insulin secretion and clearance in normal and obese subjects. J Clin Invest 1988; 81:435-41.
19. Faber OK, Binder C, Markussen J, et al. Characterization of seven C-peptide antisera. Diabetes 1978;27:Suppl 1:170-7.
20. Morgan CR, Lazarow A. Immunoassay of insulin: two antibody system: plasma insulin levels of normal, subdiabetic and diabetic rats. Diabetes 1963;12:115-26.
21. Hartling SG, Dinesen B, Kappelgard AM, Faber OK, Binder C. ELISA for human proinsulin. Clin Chim Acta 1986;156:289-97.
22. Tanizawa Y, Chiu KC, Province MA, et al. Two microsatellite repeat polymorphisms flanking opposite ends of the human glucokinase gene: use in haplotype analysis of Welsh Caucasians with type 2 (non-insulin-dependent) diabetes mellitus. Diabetologia 1993;36:409-13.
23. Chiu KC, Tanizawa Y, Permutt MA. Glucokinase gene variants in the common form of NIDDM. Diabetes 1993;42:579-82.
24. Buchs A, Wu L, Morita H, Whitesell RR, Powers AC. Two regions of GLUT 2 glucose transporter protein are responsible for its distinctive affinity for glucose. Endocrinology 1995;136:4224-30.
25. Kunkel TA, Roberts JD, Zakour RA. Rapid and efficient site-specific mutagenesis without phenotypic selection. Methods Enzymol 1987;154: 367-82.
26. Kesavan P, Wang L, Davis E, et al. Structural instability of mutant beta-cell glucokinase: implications for the molecular pathogenesis of maturity-onset diabetes of the young (type-2). Biochem J 1997;322:57-63.
27. Vandercammen A, Van Schaftingen E. Competitive inhibition of liver glucokinase by its regulatory protein. Eur J Biochem 1991;200:545-51.
28. Turner RC. Hypoglycaemia. In: Weatherall DJ, Ledingham JGG, Warrell DA, eds. Oxford textbook of medicine. Vol. 2. Oxford, England: Oxford University Press, 1996:1505-12.
29. Matschinsky FM. Glucokinase as glucose sensor and metabolic signal generator in pancreatic beta-cells and hepatocytes. Diabetes 1990;39:647-52.
30. Pilkis SJ, Weber IT, Harrison RW, Bell GI. Glucokinase: structural analysis of a protein involved in susceptibility to diabetes. J Biol Chem 1994;269:21925-8.