ABCMdb

PMID: 25733449

Rahman SA, Nessa A, Hussain K
Molecular mechanisms of congenital hyperinsulinism.
J Mol Endocrinol. 2015 Apr;54(2):R119-29. doi: 10.1530/JME-15-0016. Epub 2015 Mar 2., [PubMed]

Sentences

No. Mutations Sentence Comment

64 ABCC8 p.Arg1420Cys The R1420C mutation is located in SUR1-NBD2, and results of mutational studies have indicated that it reduces the affinity of NBD2 for ATP and ADP (Matsuo et al. 2000). Login to comment 75 ABCC8 p.Glu1506Lys Journal of Molecular Endocrinology Review S A RAHMAN, A NESSA and others Congenital hyperinsulinism 54:2 R121 http://jme.endocrinology-journals.org &#d1; 2015 Society for Endocrinology DOI: 10.1530/JME-15-0016 E1506K is a dominant heterozygous mutation, which changes the amino acid at position 1506 from glutamic acid(E)tolysine(K),andcausedCHIinsevenrelatedpatients (Huopio et al. 2000). Login to comment 76 ABCC8 p.Glu1506Lys The functional consequences of the E1506K mutant were determined using a Xenopus laevis oocytes expression system, and studied using electrophysiological techniques. Login to comment 79 ABCC8 p.Glu1506Lys This indicates that, unlike recessive ABCC8 mutations, the E1506K mutant SUR1 subunit could form KATP channels with Kir6.2 which can be activated by diazoxide. Login to comment 239 ABCC8 p.Gln54* However, to date only one patient has been described with a ABCC8 nonsense mutation (Q54X) causing this histological form of CHI (Hussain et al. 2008). Login to comment