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.

Journal article

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 routinely screened, could contain pathogenic mutations; therefore, we sequenced...

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Authors: Gasperíková, D; Tribble, N; Staník, J; Hucková, M; Misovicová, N

• Journal: Diabetes
• Volume: 58
• Issue: 8
• Pages: 1929-1935
• Publication date: 2009-08-01
• DOI: 10.2337/db09-0070
• EISSN: 1939-327X
• ISSN: 0012-1797
• Language: English
• Keywords: Mutation; Gene Expression Regulation, Enzymologic; Polymorphism, Single Nucleotide; Glucokinase; Transfection; Humans; Insulin-Secreting Cells; Hyperglycemia; Sp1 Transcription Factor; DNA Primers; Promoter Regions, Genetic