A mouse model of human hyperinsulinism produced by the E1506K mutation in the sulphonylurea receptor SUR1.

Journal article

Loss-of-function mutations in the KATP channel genes KCNJ11 and ABCC8 cause neonatal hyperinsulinism in humans. Dominantly inherited mutations cause less severe disease, which may progress to glucose intolerance and diabetes in later life (e.g., SUR1-E1506K). We generated a mouse expressing SUR1-E1506K in place of SUR1. KATP channel inhibition by MgATP was enhanced in both homozygous (homE1506K) and heterozygous (hetE1506K) mutant mice, due to impaired channel activation by MgADP. As a conseq...

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Authors: Shimomura, K; Tusa, M; Iberl, M; Brereton, M; Kaizik, S

• Publication status: Published
• Journal: Diabetes
• Volume: 62
• Issue: 11
• Pages: 3797-3806
• Publication date: 2013-11-01
• DOI: 10.2337/db12-1611
• EISSN: 1939-327X
• ISSN: 0012-1797
• Language: English
• Keywords: Islets of Langerhans; Aging; KATP Channels; Blood Glucose; Disease Models, Animal; Animals; Insulin; Heterozygote; Homozygote; Sulfonylurea Receptors; Humans; Potassium Channel Blockers; Hyperinsulinism; Calcium; Mice