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Meta-analysis: Kir6.2 rs5219 variation was associated with type 2 diabetes.
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This can be seen with dramatic impact on clinical care, in patients with genetic forms of diabetes such as Maturity Onset Diabetes of the Young caused by HNF1A mutations, and Neonatal diabetes due to activating mutations in ABCC8 or KCNJ11
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rs5215 and rs5219 of KCNJ11 were not significant predictors of incident diabetes nor effect modifiers of the association between serum K and incident diabetes.
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The study is the first report of a novel form of late-onset persistent hyperinsulinemic hypoglycemia of infancy (PHHI) that is caused by a dominant mutation in KCNJ11 and exhibits a defect in proper surface expression of Kir6.2.
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Genetic variation in the KCNJ11 is associated with Prediabetes.
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A lasso extension forms an interface between SUR1 and Kir6.2 adjacent to the ATP site in the propeller form and is disrupted in the quatrefoil form. These structures support the role of SUR1 as an ADP sensor and highlight the lasso extension as a key regulatory element in ADP's ability to override ATP inhibition.
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Combination of heterozygous mutations in the ABCC8 and KCNJ11 genes could also lead to beta cells dysfunction presenting as congenital hyperinsulinism.
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It was confirmed that this deletion in the KCNJ11 gene did not affect the protein expression levels of key pluripotent factors. Additionally, normal karyotype and differentiation potency were observed for the cell line.
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Genetic variants in KCNJ11 gene had significantly decreased pancreas weight and insulin mass similar to that of type 1 diabetes.
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genetic association studies in pediatric population in Japan: Data confirm that mutations in KCNJ11 or ABCC8 are associated with neonatal diabetes mellitus. Novel mutations were identified; 2 in KCNJ11 (V64M, R201G) and 6 in ABCC8 (R216C, G832C, F1176L, A1263V, I196N, T229N). (KCNJ11 = ATP-sensitive inward rectifier potassium channel-11; ABCC8 = ATP-binding cassette subfamily C member-8)
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Data suggest that patients with NDM (permanent neonatal diabetes mellitus) related to mutations in KCNJ11 are at increased risk for delays in learning, delays in social-emotional-behavioral development, sleep difficulties, and ADHD (attention deficit hyperactivity disorder) based on parent/guardian reports.
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When typing at the polymorphic loci in the Glu23Lys in the KCNJ11 gene, the development of type 2 Diabetes Mellitus in the Kyrgyz population was associated with the T allele the 23Lys allele (OR, 1.62; p=0.019) in the KCNJ11 gene.
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Evaluation of Glutathione Peroxidase and KCNJ11 Gene Polymorphisms in Patients with New Onset Diabetes Mellitus After Renal Transplantation.
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Herein, we report the clinical features of two siblings with a heterozygous mutation C679 G>A in the KCNJ11 gene.
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Upregulated KCNJ11 predicts a poor prognosis and is regulated by NFkappaB signaling in hepatocellular carcinoma (HCC). LDHA partially mediated the oncogenic roles of KCNJ11 in HCC.
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Description of the variety of neurodevelopmental problems seen in those with KCNJ11 mutations, even in those without recognized global developmental delays.
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Systematic assessment using standardized validated questionnaires reveals a range of psychiatric morbidity in children with KCNJ11 neonatal diabetes. This is under-recognized clinically and has a significant impact on affected children and their families. An integrated collaborative approach to clinical care is needed to manage the complex needs of people with KCNJ11 neonatal diabetes.
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data demonstrate that increased Kir6.2 is seen in reactive astrocytes in old 3xTg-Alzheimer's disease (AD) mice and human AD tissue
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KCNJ11 mutation causing loss of function of beta-cell KATP channels lead to congenital hyperinsulinism, higher basal [Ca(2+)] i and insulin secretion, increased insulin secretion in response to amino acids but not to glucose, increased basal rate of oxygen consumption and mitochondrial mass, increased rates of glycolysis, increased serine/glycine and glutamine biosynthesis, and low gamma-aminobutyric acid (GABA) levels.
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Functional studies indicated that the Kir6.2-G324R mutation reduces the channel ATP sensitivity but that the difference in ATP inhibition between homozygous and heterozygous channels is remarkably small. Nevertheless, the homozygous patient developed neonatal diabetes, whereas the heterozygous parents were, and remain, unaffected.
