Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes.

Journal article

Heterozygous activating mutations in Kir6.2 (KCNJ11), the pore-forming subunit of the adenosine triphosphate (ATP)-sensitive potassium (K(ATP)) channel, are a common cause of neonatal diabetes (ND). We assessed the functional effects of two Kir6.2 mutations associated with ND: K170T and E322K. K(ATP) channels were expressed in Xenopus oocytes, and the heterozygous state was simulated by coexpression of wild-type and mutant Kir6.2 with SUR1 (the beta cell type of sulphonylurea receptor (SUR))....

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Authors: Tarasov, A; Girard, C; Larkin, B; Tammaro, P; Flanagan, SE

• Publication status: Published
• Journal: Diabetes, obesity and metabolism
• Volume: 9 Suppl 2
• Issue: SUPPL. 2
• Pages: 46-55
• Publication date: 2007-11-01
• DOI: 10.1111/j.1463-1326.2007.00777.x
• EISSN: 1463-1326
• ISSN: 1462-8902
• Language: English
• Keywords: Potassium Channels, Inwardly Rectifying; Adenosine Triphosphate; Electric Conductivity; Humans; Mutation; Animals; Diabetes Mellitus; Heterozygote; ATP-Binding Cassette Transporters; Infant, Newborn; Rats