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KCNJ11

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https://www.readbyqxmd.com/read/29681852/genotypic-and-phenotypic-factors-influencing-drug-response-in-mexican-patients-with-type-2-diabetes-mellitus
#1
Hector E Sanchez-Ibarra, Luisa M Reyes-Cortes, Xian-Li Jiang, Claudia M Luna-Aguirre, Dionicio Aguirre-Trevino, Ivan A Morales-Alvarado, Rafael B Leon-Cachon, Fernando Lavalle-Gonzalez, Faruck Morcos, Hugo A Barrera-Saldaña
The treatment of Type 2 Diabetes Mellitus (T2DM) consists primarily of oral antidiabetic drugs (OADs) that stimulate insulin secretion, such as sulfonylureas (SUs) and reduce hepatic glucose production (e.g., biguanides), among others. The marked inter-individual differences among T2DM patients' response to these drugs have become an issue on prescribing and dosing efficiently. In this study, fourteen polymorphisms selected from Genome-wide association studies (GWAS) were screened in 495 T2DM Mexican patients previously treated with OADs to find the relationship between the presence of these polymorphisms and response to the OADs...
2018: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/29675256/a-case-with-relapsed-transient-neonatal-diabetes-mellitus-treated-with-sulfonylurea-ending-chronic-insulin-requirement
#2
Akihiko Ando, Shoichiro Nagasaka, Shun Ishibashi
We report a case of a woman with diabetes mellitus caused by a genetic defect in ABCC8 -coding sulfonylurea receptor 1 (SUR1), a subunit of the ATP-sensitive potassium (KATP ) channel protein. She was diagnosed with diabetes at 7 days after birth. After intravenous insulin drip for 1 month, her hyperglycaemia remitted. At the age of 13 years, her diabetes relapsed, and after that she had been treated by intensive insulin therapy for 25 years with relatively poor glycaemic control. She was switched to oral sulfonylurea therapy and attained euglycaemia...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29626590/altered-expression-of-wfs1-and-notch2-genes-associated-with-diabetic-nephropathy-in-t2dm-patients
#3
Sahar A Sharaf, Nagwa A Kantoush, Dina F Ayoub, Alshaymaa A Ibrahim, Amaal A Abdelaal, Rokaya Abdel Aziz, Mahmoud M ElHefnawi, Amira N Ahmed
AIM: The increased incidence of type 2 diabetes mellitus (T2DM) and the importance of early identification and management of its complications, especially diabetic nephropathy (DN), have spotted the light on genetic factors that increase risk of T2DM and its related nephropathy. The present study aimed at investigating expression of (KCNJ11, ABCC8, JAZF1, WFS1, PPARG, NOTCH2 and EXOSC4) genes in peripheral blood of T2DM patients. METHOD: The study included 30 non-complicated T2DM patients, 30 patients with DN and 40 healthy controls...
April 4, 2018: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/29527407/transient-neonatal-diabetes-mellitus-in-a-very-preterm-infant-due-to-abcc8-mutation
#4
Barbara Piccini, Caterina Coviello, Livia Drovandi, Artuso Rosangela, Francesca Monzali, Emilio Casalini, Sabrina Giglio, Sonia Toni, Carlo Dani
Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes occurring within 6 months from birth. NDM can be permanent or transient (TNDM). We report the case of a preterm infant with TNDM due to an ABCC8 mutation identified by next-generation sequencing. The pancreatic adenosine triphosphate (ATP)-sensitive K+ (K-ATP) channel is a key regulator of insulin secretion. Gain-of-function mutations in the genes encoding the Kir6.2 (KCNJ11) and SUR1 (ABCC8) subunits of the channel cause neonatal diabetes. The patient was successfully managed with insulin lispro at a 1:100 dilution, drawn up in an insulin pen injector with a 4-mm needle...
January 2018: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/29493090/clinical-heterogeneity-of-hyperinsulinism-due-to-hnf1a-and-hnf4a-mutations
#5
Joanna Yuet-Ling Tung, Kara Boodhansingh, Charles A Stanley, Diva D De León
BACKGROUND: Dominant inactivating mutations in HNF1A and HNF4A have been described to cause hyperinsulinism (HI) before evolving to diabetes. However, information available in the literature regarding the clinical phenotype is limited. OBJECTIVE: To report the prevalence of HNF1A and HNF4A mutations in a large cohort of children with HI, and to describe their genotypes and phenotypes. DESIGN: Retrospective descriptive study. METHODS: Medical records were reviewed to extract clinical information...
March 1, 2018: Pediatric Diabetes
https://www.readbyqxmd.com/read/29492846/k-atp-channel-expression-and-genetic-polymorphisms-associated-with-progression-and-survival-in-amyotrophic-lateral-sclerosis
#6
José M Vidal-Taboada, Marco Pugliese, Maria Salvadó, Josep Gámez, Nicole Mahy, Manuel J Rodríguez
The ATP-sensitive potassium (KATP ) channel directly regulates the microglia-mediated inflammatory response following CNS injury. To determine the putative role of the KATP channel in amyotrophic lateral sclerosis (ALS) pathology, we investigated whether ALS induces changes in KATP channel expression in the spinal cord and motor cortex. We also characterized new functional variants of human ABCC8, ABCC9, KCNJ8, and KCNJ11 genes encoding for the KATP channel and analyzed their association with ALS risk, rate of progression, and survival in a Spanish ALS cohort...
February 28, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29486427/pharmacogenetics-and-target-identification-in-diabetes
#7
REVIEW
Ewan R Pearson
In diabetes, pharmacogenetics can be used both to identify patient subgroups who will have most benefit and/or least harm from a particularly treatment, and to gain insights into the molecular mechanisms of drug action and disease aetiology. There is increasing evidence that genetic variation alters response to diabetes treatments-both in terms of glycaemic response and side effects. 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...
February 24, 2018: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/29473503/genetic-variants-identified-from-gwas-for-predisposition-to-type-2-diabetes-predict-sulfonylurea-drug-response
#8
N M Phani, M Vohra, P Adhikari, S K Nagri, U Shashikiran, S C D'Souza, P R R Kalluri, K Satyamoorthy, P S Rai
BACKGROUND: Several SNPs were identified through GWAS for their association with type 2 diabetes which has implications to pancreatic β-cell physiology. OBJECTIVE: We aimed to study the role of risk alleles of TCF7L2, KCNJ11, CDKN2A, CDKAL1, IGF2BP2, SLC30A8 and KCNQ1 along with pharmacokinetic variants in response to sulfonylureas. METHOD: We performed a prospective study on 209 newly diagnosed subjects; treatment naive T2D subjects were recruited...
2017: Current Molecular Medicine
https://www.readbyqxmd.com/read/29454299/congenital-forms-of-diabetes-the-beta-cell-and-beyond
#9
REVIEW
Lisa R Letourneau, Siri Atma W Greeley
The majority of patients diagnosed with diabetes less than 6 months of age, and many cases diagnosed between 6 and 12 months of age, have a gene mutation that causes permanent or transient hyperglycemia. Recent research advances have allowed for the discovery of new causes of congenital diabetes, including genes involved in pancreatic development (GATA4, NKX2-2, MNX1) and monogenic causes of autoimmune dysregulation (STAT3, LRBA). Ongoing follow-up of patients with KCNJ11 and ABCC8 mutations has supported the safety and efficacy of sulfonylureas, as well as the use of insulin pumps and continuous glucose monitors in infants with insulin-requiring forms of monogenic diabetes...
February 14, 2018: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/29396966/search-for-pharmacoepigenetic-correlations-in-type-2-diabetes-under-sulfonylurea-treatment
#10
Makrina Karaglani, Georgia Ragia, Maria Panagopoulou, Ioanna Balgkouranidou, Evangelia Nena, George Kolios, Nikolaos Papanas, Vangelis G Manolopoulos, Ekaterini Chatzaki
Sulfonylureas are insulin secretagogues which act in pancreatic β cells by blocking the KATP channels encoded by KCNJ11 and ABCC8 genes. In the present study, a pharmacoepigenetic approach was applied for the first time, investigating the correlation of KCNJ11 and ABCC8 gene promoter methylation with sulfonylureas-induced mild hypoglycemic events as well as the KCNJ11 E23K genotype. Sodium bisulfite-treated genomic DNA of 171 sulfonylureas treated T2DM patients previously genotyped for KCNJ11 E23K, including 88 that had experienced drug-associated hypoglycemia and 83 that had never experienced hypoglycemia, were analyzed for DNA methylation of KCNJ11 and ABCC8 gene promoters via quantitative Methylation-Specific PCR...
February 2, 2018: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/29396286/genetic-variants-in-post-myocardial-infarction-patients-presenting-with-electrical-storm-of-unstable-ventricular-tachycardia
#11
Advithi Rangaraju, Shuba Krishnan, G Aparna, Satish Sankaran, Ashraf U Mannan, B Hygriv Rao
Electrical storm (ES) is a life threatening clinical situation. Though a few clinical pointers exist, the occurrence of ES in a patient with remote myocardial infarction (MI) is generally unpredictable. Genetic markers for this entity have not been studied. In the present study, we carried out genetic screening in patients with remote myocardial infarction presenting with ES by next generation sequencing and identified 25 rare variants in 19 genes predominantly in RYR2, SCN5A, KCNJ11, KCNE1 and KCNH2, CACNA1B, CACNA1C, CACNA1D and desmosomal genes - DSP and DSG2 that could potentially be implicated in electrical storm...
January 30, 2018: Indian Pacing and Electrophysiology Journal
https://www.readbyqxmd.com/read/29361385/mutation-screening-of-ins-and-kcnj11-genes-in-taiwanese-children-with-type-1b-diabetic-onset-before-the-age-of-5-years
#12
Fu-Sung Lo
Type 1 diabetes (T1D) is caused by β-cell destruction, usually leading to absolute insulin deficiency. T1D is a heterogeneous disease and is divided into two subtypes according to the presence or absence of pancreatic autoantibodies: type 1A (immune mediated) and type 1B (idiopathic). Genes such as KCNJ11 or INS, which play key roles in β-cell function, provide some insight into the pathogenesis of type 1B diabetes. In this study, we screened 110 Taiwanese children (61 males and 49 females) with T1D onset before the age of 5 years for mutations of INS and KCNJ11...
January 17, 2018: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/29340108/effect-of-gene-lifestyle-interaction-on-gestational-diabetes-risk
#13
Polina V Popova, Alexandra A Klyushina, Lyudmila B Vasilyeva, Alexandra S Tkachuk, Yana A Bolotko, Andrey S Gerasimov, Evgenii A Pustozerov, Ekaterina N Kravchuk, Alexander Predeus, Anna A Kostareva, Elena N Grineva
We hypothesized that the association of certain lifestyle parameters with gestational diabetes mellitus (GDM) risk would depend on susceptibility loci. In total, 278 Russian women with GDM and 179 controls completed questionnaires about lifestyle habits (food consumption, physical activity and smoking). GDM was diagnosed according to the criteria of the International Association of Diabetes and Pregnancy Study Groups. Maternal blood was sampled for genotyping single-nucleotide polymorphisms (SNPs) in MTNR1B (rs10830963 and rs1387153), GCK (rs1799884), KCNJ11 (rs5219), IGF2BP2 (rs4402960), TCF7L2 (rs7903146 and rs12255372), CDKAL1 (rs7754840), IRS1 (rs1801278) and FTO (rs9939609)...
December 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29329106/genetic-mutations-associated-with-neonatal-diabetes-mellitus-in-omani-patients
#14
Aisha Al Senani, Nishath Hamza, Hanan Al Azkawi, Manal Al Kharusi, Nashat Al Sukaiti, Maryam Al Badi, Moza Al Yahyai, Matthew Johnson, Elisa De Franco, Sarah Flanagan, Andrew Hattersley, Sian Ellard, Waad-Allah Mula-Abed
BACKGROUND: Neonatal diabetes mellitus (NDM) is a rare disorder worldwide where diabetes is diagnosed in the first 6 months of life. However, Oman has a relatively high incidence of NDM. METHODS: In this study, we investigated the genetic etiologies underlying NDM and their prevalence in Oman. We collected a cohort of 24 NDM patients, with and without genetic diagnosis, referred to our center from 2007 to 2015. All patients without a genetic diagnosis were tested for mutations in 23 NDM-associated genes using a custom-targeted next-generation sequencing (NGS) panel and methylation analysis of the 6q24 locus...
January 26, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29280746/congenital-hyperinsulinism-diagnosis-and-treatment-update
#15
Hüseyin Demirbilek, Khalid Hussain
Pancreatic β-cells are finely tuned to secrete insulin so that plasma glucose levels are maintained within a narrow physiological range (3.5-5.5 mmol/L). Hyperinsulinaemic hypoglycaemia (HH) is the inappropriate secretion of insulin in the presence of low plasma glucose levels and leads to severe and persistent hypoglycaemia in neonates and children. Mutations in 12 different key genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, HNF1A, HK1, PGM1 and PMM2) that are involved in the regulation of insulin secretion from pancreatic β-cells have been described to be responsible for the underlying molecular mechanisms leading to congenital HH...
December 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29278452/sulfonylurea-vs-insulin-therapy-in-individuals-with-sulfonylurea-sensitive-permanent-neonatal-diabetes-mellitus-attributable-to-a-kcnj11-mutation-and-poor-glycaemic-control
#16
J Stanik, A Dankovcikova, L Barak, M Skopkova, M Palko, J Divinec, I Klimes, D Gasperikova
BACKGROUND: Therapy with sulfonylurea is preferable to insulin in the majority of individuals with KCNJ11 mutations, but not all of these people achieve target levels of HbA1c in long-term follow-up. We aimed to compare sulfonylurea therapy with insulin treatment in two sulfonylurea-sensitive individuals with a KCNJ11 mutation who had poorly controlled permanent neonatal diabetes mellitus. CASE REPORT: We report on two individuals with a KCNJ11 mutation (p.R201H) who are currently aged 35 (SVK1) and 21 years (SVK2)...
March 2018: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/29216354/high-prevalence-of-rare-monogenic-forms-of-obesity-in-obese-guadeloupean-afro-caribbean-children
#17
Lydia Foucan, Laurent Larifla, Emmanuelle Durand, Christine Rambhojan, Christophe Armand, Carl-Thony Michel, Rachel Billy, Véronique Dhennin, Franck De Graeve, Iandry Rabearivelo, Olivier Sand, Jean-Marc Lacorte, Philippe Froguel, Amélie Bonnefond
Context: The population of Guadeloupe Island exhibits a high prevalence of obesity. Objective: We aimed to investigate whether rare genetic mutations in genes involved in monogenic obesity (or diabetes) might be causal in this population of Afro-Caribbean ancestry. Design and Setting: This was a secondary analysis of a study on obesity conducted in schoolchildren from Guadeloupe in 2013 that aimed to assess changes in children's profiles after a lifestyle intervention program...
February 1, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29205704/hypoglycemia-in-sulfonylurea-treated-kcnj11-neonatal-diabetes-mild-moderate-symptomatic-episodes-occur-infrequently-but-none-involving-unconsciousness-or-seizures
#18
Monica S Lanning, David Carmody, Łukasz Szczerbiński, Lisa R Letourneau, Rochelle N Naylor, Siri Atma W Greeley
BACKGROUND: Neonatal diabetes mellitus (NDM) caused by mutations in KCNJ11 can be successfully treated with high dose oral sulfonylureas; however, little data is available on the risk of hypoglycemia. OBJECTIVE: To determine the frequency, severity, and clinical significance of hypoglycemia in KCNJ11-related NDM. METHODS: Utilizing the University of Chicago Monogenic Diabetes Registry, parents completed an online questionnaire addressing hypoglycemia...
December 5, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/29205356/molecular-and-functional-characterization-of-inwardly-rectifying-k-currents-in-murine-proximal-colon
#19
Xu Huang, Si Hyung Lee, Hongli Lu, Kenton M Sanders, Sang Don Koh
KEY POINTS: Interstitial cells of Cajal (ICC) from murine colonic muscles express genes encoding inwardly rectifying K+ channels. Transcripts of Kcnj2 (Kir2.1), Kcnj4 (Kir2.3), Kcnj14 (Kir2.4), Kcnj5 (Kir3.4), Kcnj8 (Kir 6.1) and Kcnj11 (Kir6.2) were found in colonic ICC. A conductance with properties consistent with Kir2 channels was observed in ICC but not in smooth muscle cells (SMC). Despite expression of gene transcripts, G-protein gated K+ channel (Kir3) and KATP (Kir6) currents were not resolved in ICC...
February 1, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29176012/sirolimus-therapy-for-congenital-hyperinsulinism-in-an-infant-with-a-novel-homozygous-kcnj11-mutation
#20
Sophy Korula, Aaron Chapla, Leena Priyambada, Sarah Mathai, Anna Simon
BACKGROUND: Congenital hyperinsulinism results in refractory hypoglycemia. If a therapy with diazoxide has been unresponsive this has been treated by subtotal pancreatectomy in the past. This therapeutic option poses an increased risk of developing diabetes at a later stage. There have been a few case reports on the use of sirolimus in such situations in the recent past. CASE PRESENTATION: Our patient was started on sirolimus very early, on day 29 of life and at the age of 14 months is doing well on sirolimus therapy...
January 26, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
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