ABCMdb

PMID: 15963039

Hussain K, Cosgrove KE
From congenital hyperinsulinism to diabetes mellitus: the role of pancreatic beta-cell KATP channels.
Pediatr Diabetes. 2005 Jun;6(2):103-13., [PubMed]

Sentences

No. Mutations Sentence Comment

132 ABCC8 p.Glu1506Lys For example, some SUR1 mutations (such as the E1506K and G1382S mutations) cause CHI by reducing the sensitivity of the channel to stimulation by MgADP, thus demonstrating the critical role of MgADP in activating KATP channels in physiological conditions (54). Login to comment 207 ABCC8 p.Glu1506Lys SUR1 mutations as a cause of CHI leading to diabetes mellitus A unique example of how defects in KATP channels can cause CHI and diabetes is illustrated by the dominant heterozygous missense mutation (E1506K) in the SUR ABCC8 gene in a large Finnish family (91). Login to comment 208 ABCC8 p.Glu1506Lys In the infancy period, heterozygous E1506K carriers of this mutation have a mild form of CHI due to reduction of KATP channel activity. Login to comment 211 ABCC8 p.Glu1506Lys Glucose-induced, first-phase insulin secretion was normal in children younger than 10 yr of age who were heterozygous for the SUR1 E1506K mutation; it fell rapidly after puberty and was almost completely lost in adulthood. Login to comment