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KCNJ11

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https://www.readbyqxmd.com/read/28727822/dna-methylation-of-candidate-genes-in-peripheral-blood-from-patients-with-type-2-diabetes-or-the-metabolic-syndrome
#1
Sanne D van Otterdijk, Alexandra M Binder, Katarzyna Szarc Vel Szic, Julia Schwald, Karin B Michels
INTRODUCTION: The prevalence of type 2 diabetes (T2D) and the metabolic syndrome (MetS) is increasing and several studies suggested an involvement of DNA methylation in the development of these metabolic diseases. This study was designed to investigate if differential DNA methylation in blood can function as a biomarker for T2D and/or MetS. METHODS: Pyrosequencing analyses were performed for the candidate genes KCNJ11, PPARγ, PDK4, KCNQ1, SCD1, PDX1, FTO and PEG3 in peripheral blood leukocytes (PBLs) from 25 patients diagnosed with only T2D, 9 patients diagnosed with T2D and MetS and 11 control subjects without any metabolic disorders...
2017: PloS One
https://www.readbyqxmd.com/read/28717589/association-of-polymorphic-markers-of-genes-fto-kcnj11-cdkal1-slc30a8-and-cdkn2b-with-type-2-diabetes-mellitus-in-the-russian-population
#2
Aleksey G Nikitin, Viktor Y Potapov, Olga I Brovkina, Ekaterina O Koksharova, Dmitry S Khodyrev, Yury I Philippov, Marina S Michurova, Minara S Shamkhalova, Olga K Vikulova, Svetlana A Smetanina, Lyudmila A Suplotova, Irina V Kononenko, Viktor Y Kalashnikov, Olga M Smirnova, Alexander Y Mayorov, Valery V Nosikov, Alexander V Averyanov, Marina V Shestakova
BACKGROUND: The association of type 2 diabetes mellitus (T2DM) with the KCNJ11, CDKAL1, SLC30A8, CDKN2B, and FTO genes in the Russian population has not been well studied. In this study, we analysed the population frequencies of polymorphic markers of these genes. METHODS: The study included 862 patients with T2DM and 443 control subjects of Russian origin. All subjects were genotyped for 10 single nucleotide polymorphisms (SNPs) of the genes using real-time PCR (TaqMan assays)...
2017: PeerJ
https://www.readbyqxmd.com/read/28705548/age-dependent-ventricular-arrhythmias-risk-structural-and-molecular-remodeling-in-systemic-arterial-hypertension
#3
Alina Scridon, Rosa Doñate Puertas, Waheed Manati, Emmanuelle Fouilloux-Meugnier, Emmanuelle Loizon, Valérie Oréa, Bruno Chapuis, Claude Julien, Christian Barrès, Alain Tabib, Philippe Chevalier
INTRODUCTION: The left ventricular hypertrophy (LVH)-ventricular arrhythmias relationship associated with arterial hypertension and aging remains controversial. We aimed to assess the age-dependency of ventricular arrhythmias in spontaneously hypertensive rats (SHRs) and the corresponding ventricular structural and molecular remodeling. MATERIALS AND METHODS: Ventricular arrhythmias were quantified using 24-h radiotelemetry ECG monitoring in eight SHRs and four Wistar-Kyoto (WKY) rats at 14 (young), 24 (adult), and 48 (aging) weeks of age...
July 10, 2017: Mechanisms of Ageing and Development
https://www.readbyqxmd.com/read/28685055/identification-of-genetic-variants-in-pharmacogenetic-genes-associated-with-type-2-diabetes-in-a-mexican-mestizo-population
#4
Nidia Samara Rodríguez-Rivera, Patricia Cuautle-Rodríguez, Fernando Castillo-Nájera, Juan Arcadio Molina-Guarneros
Type 2 diabetes mellitus (T2DM) is one of the most prevalent chronic pathologies in the world. In developing countries, such as Mexico, its prevalence represents an important public health and research issue. Determining factors triggering T2DM are environmental and genetic. While diet, exercise and proper weight control are the first measures recommended to improve the quality of life and life expectancy of patients, pharmacological treatment is usually the next step. Within every population there are variations in interindividual drug response, which may be due to genetic background...
July 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28667717/clinical-and-molecular-characterization-of-children-with-neonatal-diabetes-mellitus-at-a-tertiary-care-center-in-northern-india
#5
Vandana Jain, Amit Satapathy, Jaivinder Yadav, Rajni Sharma, Venkatesan Radha, Viswanathan Mohan, Elisa De Franco, Sian Ellard
OBJECTIVE: To study the genetic mutations and clinical profile in children with neonatal diabetes mellitus. METHODS: Genetic evaluation, clinical management and follow-up of infants with neonatal diabetes. RESULTS: Eleven infants were studied of which eight had permanent neonatal diabetes. Median age at presentation was 8 weeks and mean (SD) birth weight was 2.4 (0.5) kg. Pathogenic genetic mutations were identified in 7 (63.6%) children; 3 infants with mutations in KCNJ11 gene and 1 in ABCC8 were switched to oral sulfonylureas; 2 infants had mutations in INS and 1 in ZFP57...
June 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28666500/permanent-neonatal-diabetes-dend-syndrome
#6
Sabeen Abid Khan, Arit Parkash, Mohsina Ibrahim
DEND syndrome is a very rare syndrome of permanent neonatal diabetes mellitus, with an incidence of < 1/1000,000. It is defined as a triad of developmental delay, epilepsy, and neonatal diabetes. We report the case of a 9-month infant girl who presented with the most severe form of neonatal diabetes mellitus spectrum along with developmental delay and epilepsy. Genetic mutation testing confirmed mutations in KCNJ11 gene encoding the Kir6.2 subunit of the K-ATPchannel, which are involved in insulin secretion...
November 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28663161/pancreatic-agenesis-due-to-compound-heterozygosity-for-a-novel-enhancer-and-truncating-mutation-in-the-ptf1a-gene
#7
Monica Gabbay, Sian Ellard, Elisa De Franco, Regina S Moises
Neonatal diabetes, defined by the onset of diabetes within the first six months of life, is very rarely caused by pancreatic agenesis. Homozygous truncating mutations in the PTF1A gene, which encodes a transcriptional factor, have been reported in patients with pancreatic and cerebellar agenesis, whilst mutations located in a distal pancreatic-specific enhancer cause isolated pancreatic agenesis. We report an infant, born to healthy non-consanguineous parents, with neonatal diabetes due to pancreatic agenesis...
June 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28663158/an-abcc8-nonsense-mutation-causing-neonatal-diabetes-through-altered-transcript-expression
#8
Sarah Flanagan, Vũ Chí Dũng, Jayne Houghton, Elisa De Franco, Can Thi Bich Ngoc, Annet Damhuis, Frances Ashcroft, Lorna Harries, Sian Ellard
OBJECTIVE: The pancreatic 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 whilst loss-of-function mutations in these genes result in congenital hyperinsulinism. We report two patients with neonatal diabetes in whom we unexpectedly identified recessively inherited loss-of-function mutations. The aim of this study was to investigate how a homozygous nonsense mutation in ABCC8 could result in neonatal diabetes...
June 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28649285/introduction-of-the-diagene-study-clinical-characteristics-pathophysiology-and-determinants-of-vascular-complications-of-type-2-diabetes
#9
Thijs T W van Herpt, Roosmarijn F H Lemmers, Mandy van Hoek, Janneke G Langendonk, Ronald J Erdtsieck, Bert Bravenboer, Annelies Lucas, Monique T Mulder, Harm R Haak, Aloysius G Lieverse, Eric J G Sijbrands
BACKGROUND: Type 2 diabetes is a major healthcare problem. Glucose-, lipid-, and blood pressure-lowering strategies decrease the risk of micro- and macrovascular complications. However, a substantial residual risk remains. To unravel the etiology of type 2 diabetes and its complications, large-scale, well-phenotyped studies with prospective follow-up are needed. This is the goal of the DiaGene study. In this manuscript, we describe the design and baseline characteristics of the study...
2017: Diabetology & Metabolic Syndrome
https://www.readbyqxmd.com/read/28587604/kcnj11-abcc8-and-tcf7l2-polymorphisms-and-the-response-to-sulfonylurea-treatment-in-patients-with-type-2-diabetes-a-bioinformatics-assessment
#10
Jingwen Song, Yunzhong Yang, Franck Mauvais-Jarvis, Yu-Ping Wang, Tianhua Niu
BACKGROUND: Type 2 diabetes (T2D) is a worldwide epidemic with considerable health and economic consequences. Sulfonylureas are widely used drugs for the treatment of patients with T2D. KCNJ11 and ABCC8 encode the Kir6.2 (pore-forming subunit) and SUR1 (regulatory subunit that binds to sulfonylurea) of pancreatic β cell KATP channel respectively with a critical role in insulin secretion and glucose homeostasis. TCF7L2 encodes a transcription factor expressed in pancreatic β cells that regulates insulin production and processing...
June 6, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28577450/n-acetylcysteine-induced-vasodilatation-is-modulated-by-katp-channels-na-k-atpase-activity-and-intracellular-calcium-concentration-an-in-vitro-study
#11
Özden Vezir, Ülkü Çömelekoğlu, Nehir Sucu, Ali Erdinç Yalın, Şakir Necat Yılmaz, Serap Yalın, Fatma Söğüt, Selma Yaman, Kezban Kibar, Merih Akkapulu, Meryem İlkay Koç, Didem Seçer
BACKGROUND: In this study, we aimed to investigate the role of ATP-sensitive potassium (KATP) channel, Na(+)/K(+)-ATPase activity, and intracellular calcium levels on the vasodilatory effect of N-acetylcysteine (NAC) in thoracic aorta by using electrophysiological and molecular techniques. METHODS: Rat thoracic aorta ring preparations and cultured thoracic aorta cells were divided into four groups as control, 2mM NAC, 5mM NAC, and 10mM NAC. Thoracic aorta rings were isolated from rats for measurements of relaxation responses and Na(+)/K(+)-ATPase activity...
March 31, 2017: Pharmacological Reports: PR
https://www.readbyqxmd.com/read/28508606/surgery-in-focal-congenital-hyperinsulinism-chi-the-hyperinsulinism-germany-international-experience-in-30-children
#12
Winfried Barthlen, Emine Varol, Susann Empting, Ilse Wieland, Martin Zenker, Wolfgang Mohnike, Silke Vogelgesang, Klaus Mohnike
OBJECTIVES: Results of surgery for focal CHI in 30 children PATIENTS AND METHODS: All showed an ABCC8 or KCNJ11 mutation. After PET/CT in 29 children and PET/MRT in 1 case, frozen-section guided resection was performed, in left-sided cases by laparoscopy. Mean age at surgery was 11.7 months (2-49). RESULTS: In 28/30 children, the PET/CT or MRT correlated with histopathology. In two cases, a focal lesion was undectable; one of these was cured, one not. In total, 24 children showed lesions with sizes of 5-12 mm...
December 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28480665/dend-syndrome-with-heterozygous-kcnj11-mutation-successfully-treated-with-sulfonylurea
#13
Ja Hyang Cho, Eungu Kang, Beom Hee Lee, Gu Hwan Kim, Jin Ho Choi, Han Wook Yoo
Permanent neonatal diabetes mellitus (PNDM) is caused by mutations in the ATP-sensitive potassium channel (KATP channel) subunits. Developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome is the most severe form of PNDM and is characterized by various neurologic features. We report on a patient with DEND syndrome following initial misdiagnosis with type 1 DM, who was successfully switched from insulin to sulfonylurea therapy. A 50-day-old male presented with fever and seizure, complicated by persistent hyperglycemia...
June 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28477417/neuropsychological-impairments-in-children-with-kcnj11-neonatal-diabetes
#14
P Bowman, A T Hattersley, B A Knight, E Broadbridge, L Pettit, M Reville, S E Flanagan, M H Shepherd, T J Ford, J Tonks
We support the findings of Carmody et al. [1], who offered new insights into the neurological phenotype of people with KCNJ11 neonatal diabetes. Neurological features result from the KATP channel affected by these mutations being expressed in the brain as well as the pancreas [2]. Previous work has characterized developmental delay associated with specific mutations, for example, V59M, known as developmental delay, epilepsy and neonatal diabetes (DEND) syndrome [3,4]. Affected individuals also have impaired visuo-motor performance [5] and psychiatric (predominantly neurodevelopmental) disorders [6]...
May 6, 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/28464250/regulation-of-histone-acetylation-on-expression-profiles-of-potassium-channels-during-cardiomyocyte-differentiation-from-mouse-embryonic-stem-cells
#15
Duo Wang, Chang Liu, Zhigang Li, Yumei Wang, Wenjing Wang, Xiujuan Wu, Kang Wang, Wei Miao, Li Li, Luying Peng
The cardiomyocyte differentiation from mouse embryonic stem cells (mESCs) is a dynamic and complex process that involved in the precision regulation of histone acetylation. The formation of action potential (AP) in mature cardiomyocytes is based on the expression pattern of Na(+) , Ca(2+) , and K(+) ion channels, in which the slow delayed rectifier potassium current (IKs ), the rapid delayed rectifier potassium current (IKr ) and the inwardly rectifying Kir current (IK1 ) mainly contribute to repolarization for AP in different species...
May 2, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28460053/utilizing-the-kcnj11-gene-mutations-in-spotting-egyptian-patients-with-permanent-neonatal-diabetes-who-can-benefit-from-treatment-shift
#16
Dina M Ahmed, Soha M Abdel Dayem, Mona Abdel Kader, Rania H Khalifa, Dalia H El-Lebedy, Solaf A Kamel, Shereen M Shawky
Background: Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes mellitus. Until now, patients in developing countries who had this condition had been misdiagnosed as having type 1 diabetes mellitus and accordingly directed to erroneous, ineffective, and costly therapeutic regimens. Objective: To detect Egyptian patients who harbor pathological variant in the KCNJ11 gene, so that their treatment regimen can be modified as needed to increase its effectiveness...
April 27, 2017: Laboratory Medicine
https://www.readbyqxmd.com/read/28458900/congenital-hyperinsulinism-and-poland-syndrome-in-association-with-10p13-14-duplication
#17
Dinesh Giri, Prashant Patil, Rachel Hart, Mohammed Didi, Senthil Senniappan
SUMMARY: Poland syndrome (PS) is a rare congenital condition, affecting 1 in 30 000 live births worldwide, characterised by a unilateral absence of the sternal head of the pectoralis major and ipsilateral symbrachydactyly occasionally associated with abnormalities of musculoskeletal structures. A baby girl, born at 40 weeks' gestation with birth weight of 3.33 kg (-0.55 SDS) had typical phenotypical features of PS. She had recurrent hypoglycaemic episodes early in life requiring high concentration of glucose and glucagon infusion...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28449408/prediabetes-is-associated-with%C3%A2-genetic-variations-in-the-kir6-2-subunit%C3%A2-kcnj11-%C3%A2-of-pancreatic-atp-sensitive-potassium-channel-gene-a-case-control-study-in-youth-han-chinese-population
#18
Min Xu, Honglin Hu, Datong Deng, Mingwei Chen, Zhenshan Xu, Youmin Wang
BACKGROUND: E23K variant of the KCNJ11 has been reported to be associated with type 2 diabetes in multiple populations. However, little is known about the role of E23K polymorphism of the KCNJ11 in the development of prediabetes in youth in China. METHODS: To this end, we recruited 279 subjects with prediabetes and 240 normal controls. RESULTS: We found that prediabetic Chinese youth exhibited higher carrier rate of K23-allele-containing genotypes than control subjects (p = 0...
April 27, 2017: Journal of Diabetes
https://www.readbyqxmd.com/read/28439221/congenital-hyperinsulinism-caused-by-a-de-novo-mutation-in-the-abcc8-gene-a-case-report
#19
Zsuzsanna Molnár, Lfdia Balogh, János Kappelmayer, László Madar, Éva Gombos, István Balogh
Congenital hyperinsulinism (CHI) is a rare genetic disorder characterized by inappropriate insulin secretion and severe hypoglycaemia. There are two histological subtypes: diffuse and focal form. Diffuse form is most common in autosomal recessive mutations in ABCC8/KCNJ11 gene, while focal CHI is caused a paternally inherited mutation and a somatic maternal allele loss. Here we report a case of a term male infant presented with severe hyperinsulinaemic hypoglycaemia. Gene panel testing was performed to give rapid genetic diagnosis...
March 2017: EJIFCC
https://www.readbyqxmd.com/read/28387875/polymorphism-e23k-rs5219-in-the-kcnj11-gene-in-euro-brazilian-subjects-with-type-1-and-2-diabetes
#20
S W Souza, L P Alcazar, P A Arakaki, I C R Santos-Weiss, D Alberton, G Picheth, F G M Rego
Insulin secretion is regulated by ATP-sensitive potassium channels (KATP). The potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) gene, located on chromosome 11p15.1, encodes the subunit Kir6.2 that forms the pore region of KATP channels in pancreatic β-cells. Among the single nucleotide polymorphisms (SNPs) associated with KCNJ11, the E23K polymorphism (rs5219) promotes a substitution (G > A) of a glutamic acid residue for lysine at position 23. The E23K SNP has been associated with diabetes in several populations, although with controversial results...
April 5, 2017: Genetics and Molecular Research: GMR
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