No evidence for mutations in a putative subunit of the beta-cell ATP-sensitive potassium channel (K-ATP channel) in Japanese NIDDM patients.

Journal article

The ATP-sensitive K channel (K-ATP channel) in pancreatic beta cells is believed to play a crucial role in glucose-stimulated insulin release. We investigated whether defects in the recently cloned gene for a putative subunit of this channel (KATP-2) could be a cause of diabetes in Japanese patients. The coding region of this beta-cell type channel gene was investigated in 192 diabetics with a family history of the disorder by single-stranded conformational polymorphism (SSCP) analysis. Two silent polymorphisms were found and confirmed by sequencing, but no missense or nonsense mutations were detected. The allele frequency of the polymorphisms was compared with 96 control subjects without a family history of the disease, and no clear difference was found. These results indicate that genetic defects of the KATP-2 channel may not be a major cause of diabetes in Japan.

Authors: Yasuda, K; Sakura, H; Mori, Y; Iwamoto, K; Shimokawa, K

• Publication status: Published
• Journal: Biochemical and biophysical research communications
• Volume: 211
• Issue: 3
• Pages: 1036-1040
• Publication date: 1995-06-01
• DOI: 10.1006/bbrc.1995.1915
• EISSN: 1090-2104
• ISSN: 0006-291X
• Language: English
• Keywords: Humans; Japan; Polymerase Chain Reaction; Adult; Potassium Channels; Diabetes Mellitus, Type 2; Base Sequence; Asian Continental Ancestry Group; Molecular Sequence Data; Islets of Langerhans; Mutation; DNA Primers