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Heterozygous ABCC8 mutations are a cause of MODY |
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| Authors: | P. Bowman S. E. Flanagan E. L. Edghill A. Damhuis M. H. Shepherd R. Paisey A. T. Hattersley S. Ellard |
| Affiliation: | (1) Peninsula NIHR Clinical Research Facility, Peninsula Medical School, University of Exeter, Exeter, UK;(2) Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter, UK;(3) Department of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, EX2 5AD, UK;(4) Department of Diabetes and Endocrinology, Torbay Hospital, Devon, UK; |
| Abstract: | Aims/hypothesisThe ABCC8 gene encodes the sulfonylurea receptor 1 (SUR1) subunit of the pancreatic beta cell ATP-sensitive potassium (KATP) channel. Inactivating mutations cause congenital hyperinsulinism (CHI) and activating mutations cause transient neonatal diabetes (TNDM) or permanent neonatal diabetes (PNDM) that can usually be treated with sulfonylureas. Sulfonylurea sensitivity is also a feature of HNF1A and HNF4A MODY, but patients referred for genetic testing with clinical features of these types of diabetes do not always have mutations in the HNF1A/4A genes. Our aim was to establish whether mutations in the ABCC8 gene cause MODY that is responsive to sulfonylurea therapy. |
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