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Diabetologia
Published in: Diabetologia 1/2009

01-01-2009 | Letter

Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia

Authors: A. L. Gloyn, M. van de Bunt, I. M. Stratton, L. Lonie, L. Tucker, S. Ellard, R. R. Holman

Published in: Diabetologia | Issue 1/2009

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Excerpt

To the Editor: Glucokinase is a key enzyme that regulates insulin secretion by changing beta cell glucose phosphorylation rates over the range of physiological glucose concentrations [1]. Inactivating mutations in the gene encoding glucokinase (GCK), as seen in glucokinase MODY (GCK-MODY), shift the threshold value for glucose-stimulated insulin secretion from ∼5 to ∼7 mmol/l, resulting in elevated fasting plasma glucose (FPG) levels (5.5–8.0 mmol/l) but normal (typically <4.6 mmol/l) 2 h plasma glucose increments (2HPGI) after a 75 g OGTT [2]. …
Appendix
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Literature
1.
Matschinsky FM (2002) Regulation of pancreatic beta-cell glucokinase: from basics to therapeutics. Diabetes 51(Suppl 3):S394–S404PubMedCrossRef
2.
Ellard S, Bellané-Chantelot C, Hattersley AT, European Molecular Genetics Quality Network (EMQN) MODY Group (2008) Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia 51:546–553PubMedCrossRef
3.
Karunakaran S, Hammersley MJ, Morris RJ, Turner RC, Holman RR (1997) The Fasting Hyperglycaemia Study: III. Randomised control trial of sulphonylurea therapy in subjects with increased but not diabetic fasting plasma glucose. Metabolism 46(12 Suppl 1):56–60PubMedCrossRef
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5.
Gloyn AL (2003) Glucokinase (GCK) mutations in hyper- and hypoglycemia: Maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy. Hum Mutat 22:353–362PubMedCrossRef
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Matthews DR, Hosker JP, Rudenski AS, Naylor BA, Treacher DF, Turner RC (1985) Homeostasis model assessment: insulin resistance and B cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia 28:412–419PubMedCrossRef
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Feigerlova E, Pruhova S, Dittertova L et al (2006) Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents. Eur J Pediatr 165:446–452PubMedCrossRef
8.
Massa O, Meschi F, Cuesta-Munoz A et al (2001) 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 44:898–905PubMedCrossRef
Metadata
Title
Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia
Authors
A. L. Gloyn
M. van de Bunt
I. M. Stratton
L. Lonie
L. Tucker
S. Ellard
R. R. Holman
Publication date
01-01-2009
Publisher
Springer-Verlag
Published in
Diabetologia / Issue 1/2009
Print ISSN: 0012-186X
Electronic ISSN: 1432-0428
DOI
https://doi.org/10.1007/s00125-008-1188-4

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