ABCC8 p.Arg248Gln
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PMID: 18346985
[PubMed]
Tarasov AI et al: "A rare mutation in ABCC8/SUR1 leading to altered ATP-sensitive K+ channel activity and beta-cell glucose sensing is associated with type 2 diabetes in adults."
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83
(E), wild type; (F), Y356C; (f), K1521N; (Ⅺ), H1023Y; (Œ), R248Q; (‚), L582V; (ૺ), R1379C.
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ABCC8 p.Arg248Gln 18346985:83:70
status: NEW117 The two other ABCC8 mutations that we found to be associated with adult-onset diabetes were R248Q (type 2 diabetic patient diagnosed at age 39 years without familial cosegregation) (online appendix Fig. 1) and K1521N (two type 2 diabetic patients diagnosed at age 37 and 42 years).
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ABCC8 p.Arg248Gln 18346985:117:92
status: NEW120 To test whether the mutations associated with type 2 diabetes might affect stimulus-secretion coupling in beta-cells, we next measured the sensitivity to ATP of recombinant KATP channels carrying SUR-Y356C, -R248Q, and -K1521N and compared these to the ATP sensitivity of TND-associated mutants (4), L582V, H1023Y, and R1379C.
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ABCC8 p.Arg248Gln 18346985:120:208
status: NEW125 The concentration-inhibition curves for KATP channels carrying SUR1-R248Q and SUR1-K1521N were practically identical to the wild type, suggesting either that these mutations affected other properties of the channel or were not responsible for diabetes (Fig. 1C).
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ABCC8 p.Arg248Gln 18346985:125:68
status: NEW127 Patches with SUR1-R248Q channels exhibited much smaller conductances of 1.2 Ϯ 0.8 ns.
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ABCC8 p.Arg248Gln 18346985:127:18
status: NEW