Diabetes & Metabolism Journal

Review

Neonatal Diabetes Caused by Activating Mutations in the Sulphonylurea Receptor: Peter Proks; Diabetes Metab J. 2013;37(3):157-164. Published online June 14, 2013; DOI: https://doi.org/10.4093/dmj.2013.37.3.157

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Adenosine triphosphate (ATP)-sensitive potassium (K_ATP) channels in pancreatic β-cells play a crucial role in insulin secretion and glucose homeostasis. These channels are composed of two subunits: a pore-forming subunit (Kir6.2) and a regulatory subunit (sulphonylurea receptor-1). Recent studies identified large number of gain of function mutations in the regulatory subunit of the channel which cause neonatal diabetes. Majority of mutations cause neonatal diabetes alone, however some lead to a severe form of neonatal diabetes with associated neurological complications. This review focuses on the functional effects of these mutations as well as the implications for treatment.

Citations

Citations to this article as recorded by

Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes
Pamela Bowman, Frances Mathews, Fabrizio Barbetti, Maggie H. Shepherd, Janine Sanchez, Barbara Piccini, Jacques Beltrand, Lisa R. Letourneau-Freiberg, Michel Polak, Siri Atma W. Greeley, Eamon Rawlins, Tarig Babiker, Nicholas J. Thomas, Elisa De Franco, S
Diabetes Care.2021; 44(1): 35. CrossRef
Structure based analysis of KATP channel with a DEND syndrome mutation in murine skeletal muscle
Shoichiro Horita, Tomoyuki Ono, Saul Gonzalez-Resines, Yuko Ono, Megumi Yamachi, Songji Zhao, Carmen Domene, Yuko Maejima, Kenju Shimomura
Scientific Reports.2021;[Epub] CrossRef
Clinical and Genetic Characteristics of ABCC8 Nonneonatal Diabetes Mellitus: A Systematic Review
Meng Li, Xueyao Han, Linong Ji, Karim Gariani
Journal of Diabetes Research.2021; 2021: 1. CrossRef
Spacial models of malfunctioned protein complexes help to elucidate signal transduction critical for insulin release
Katarzyna Walczewska-Szewc, Wieslaw Nowak
Biosystems.2019; 177: 48. CrossRef
Cantu syndrome–associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-of-function by differential mechanisms
Conor McClenaghan, Alex Hanson, Monica Sala-Rabanal, Helen I. Roessler, Dragana Josifova, Dorothy K. Grange, Gijs van Haaften, Colin G. Nichols
Journal of Biological Chemistry.2018; 293(6): 2041. CrossRef
Hyperinsulinism-Causing Mutations Cause Multiple Molecular Defects in SUR1 NBD1
Claudia P. Alvarez, Marijana Stagljar, D. Ranjith Muhandiram, Voula Kanelis
Biochemistry.2017; 56(18): 2400. CrossRef
K_ATP Channel Mutations and Neonatal Diabetes
Kenju Shimomura, Yuko Maejima
Internal Medicine.2017; 56(18): 2387. CrossRef
Molecular action of sulphonylureas on KATP channels: a real partnership between drugs and nucleotides
Heidi de Wet, Peter Proks
Biochemical Society Transactions.2015; 43(5): 901. CrossRef
Successful development and use of a thermodynamic stability screen for optimizing the yield of nucleotide binding domains
Elvin D. de Araujo, Voula Kanelis
Protein Expression and Purification.2014; 103: 38. CrossRef
Reclasificación y transferencia de insulina a sulfonilureas en un paciente con mutación en KCNJ11 tras 15 años de tratamiento con insulina
Magdalena Capponi, Carmen Quirós, Ignacio Conget, Enric Esmatjes, Marga Giménez
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Original Articles

Association of Kir6.2 and Peroxisome Proliferator-activated Receptor-gamma (PPARgamma) Polymorphisms with Type 2 Diabetes in Koreans.: Jung Eun Lee, Su Won Kim, Hyun Ae Seo, Jae Han Jeon, Seong Su Moon, Hee Kyung Kim, Yun Jeong Doh, Bo Wan Kim, Jung Guk Kim, Min Yoo, In Kyu Lee; Korean Diabetes J. 2007;31(6):455-464. Published online November 1, 2007; DOI: https://doi.org/10.4093/jkda.2007.31.6.455

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Abstract PDF: BACKGROUND
The type 2 diabetes is a typical polygenic disease complex, for which several common risk alleles have been identified. Several variants may contribute significantly to the risk of type 2 diabetes conferring insulin resistance of liver, muscle and fat (Pro12Ala) and a relative insulin secretory deficiency (Glu23Lys). In this study, we evaluated the association of Pro12Ala variant of the peroxisome proliferator- activated receptor-gamma and the Glu23Lys variant of the ATP-sensitive potassium channel, Kir6.2 (KCNJ11) with the type 2 diabetes in Korean population. METHOD: This study included 331 subjects consisting of 172 patients with type 2 diabetes and 159 non- diabetic control subjects enrolled from the Kyungpook, Keimyung and Catholic university hospital in Daegu, Korea. We genotyped Kir6.2 (Glu23Lys) and PPARgamma (Pro12Ala) polymorphism and examined their association with the type 2 diabetes. RESULT: In the separate analyses, the Kir6.2 Glu23Lys (P = 0.385) and the PPARgamma Pro12Ala (P = 0.191) polymorphism showed no significant association with type 2 diabetes. In addition, the results of our study showed no evidence of a synergistic interaction between Kir6.2 and PPARgamma gene in each group (P = 0.110, P = 0.276). CONCLUSION: In this study, no association was seen between the genetic polymorphisms of Kir6.2, PPARgamma and type 2 diabetes. However, to clarify whether genetic polymorphisms of these genes contribute to the development of type 2 diabetes, further studies involving larger Korean populations may be needed.

Polymorphisms of Kir6.2 Gene are Associated with Type 2 Diabetes and Blood Pressure in the Korean Population.: Bo Kyeong Koo, Hong Il Kim, Eu Jin Lee, Young Min Cho, Hyoung Doo Shin, Hak Chul Jang, Hong Kyu Lee, Kyong Soo Park; Korean Diabetes J. 2005;29(5):440-450. Published online September 1, 2005

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Abstract PDF: BACKGOUND: ATP-sensitive potassium channels are a heterooctamer of SUR1 and Kir6.2, which are key components in the insulin secretory mechanism. Whether common variants in the Kir6.2 gene are associated with type 2 diabetes and/or its associated phenotypes was investigated. METHODS: The Kir6.2 gene was sequenced in 24Korean DNA samples to identify common polymorphisms (frequency > 0.05). The common variants found among these samples were genotyped in a larger population including type 2 diabetic patients and nondiabetic subjects. RESULTS: Thirteen single nucleotide polymorphisms and one insertion/deletion polymorphism were identified in the Kir6.2 gene, with six common variants(g.-1709A>T, g.-1525T>C, g.67G >A [E23K], g.570C>T [A190A], g.1009A>G [1337V], and g.1388C>T) genotyped in 761 type 2 diabetic patients and 675 nondiabetic subjects. Four individual polymorphisms(g.-1525T > C, g.67G>A, g.1009A>G and g.1388C>T) appeared to be associated with type 2 diabetes (age, sex and BMI-adjusted odds ratio[OR]=0.751[0.584-0.967] in the recessive model on g-1525T>C, 1.193 [1.020-1.394] in the additive model in g.67G>A, 1.195 [1.022-1.399] in the additive model on g.1009A>G, 0.835 [0.717-0.973] in the additive model in g.1388C >T). The haplotype "ATACGC" in the Kir6.2 gene, composed of rare allele in the g.67 and g.1009, was also associated with a higher prevalence of type 2 diabetes (age, sex, and BMI- adjusted OR = 1.256 [1.067-1.479], P for logistic regression = 0.006). In addition g.67G>A and g.1009A >G in the KCNJ11 were strongly associated with a high systolic blood pressure. CONCLUSION: Polymorphisms in the Kir6.2 gene are associated with type 2 diabetes and blood pressure in the Korean population.

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