Article
Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans.
Diabetes - 1 Aug 2009
Gasperíková Daniela, Tribble Nicolas D, Staník Juraj, Hucková Miroslava, Misovicová Nadezda, van de Bunt Martijn, Valentínová Lucia, Barrow Beryl A, Barák L'ubomir, Dobránsky Radoslav, Bereczková Eva, Michálek Jozef, Wicks Kate, Colclough Kevin, Knight Julian C, Ellard Sian, Klimes Iwar, Gloyn Anna L
Abstract excerpt
OBJECTIVE: Inactivating mutations in glucokinase (GCK) cause mild fasting hyperglycemia. Identification of a GCK mutation has implications for treatment and prognosis; therefore, it is important to identify these individuals. A significant number of patients have a phenotype suggesting a defect in glucokinase but no abnormality of GCK. We hypothesized that the GCK beta-cell promoter region, which currently is not...
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