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https://www.readbyqxmd.com/read/29120028/precision-medicine-for-monogenic-diabetes-from-a-survey-to-the-development-of-a-next-generation-diagnostic-panel
#1
Sakina Kherra, Jean-Louis Blouin, Federico Santoni, Valerie Schwitzgebel
Monogenic diabetes (MD) accounts for 1-2% of all diabetes cases. Because of its wide phenotypic spectrum, MD is often misdiagnosed as type 1 or type 2 diabetes. While clinical and biochemical parameters can suggest MD, a definitive diagnosis requires genetic analysis. We conducted a survey among clinicians specialising in diabetes to document the cases with MD. Of 74 clinically suspected MD patients, 46% had undergone genetic analysis, which was mostly conducted using Sanger's classical sequencing method. The most common recorded mutations were located in the GCK gene, followed by the mitochondrial genome (m...
November 9, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/29099131/alterations-in-lipid-metabolism-due-to-a-protein-restricted-diet-in-rats-during-gestation-and-or-lactation
#2
T C Sosa-Larios, A A Miliar-Garcia, L A Reyes-Castro, S Morimoto, M E Jaramillo-Flores
Perinatal malnutrition affects not only fetal and neonatal growth, but also the health of offspring in adulthood, as suggested by the concept of metabolic programming. The impact of maternal protein malnutrition on the metabolism of offspring is demonstrated with the current data. One group of pregnant/lactating female rats was fed with an isocaloric diet having normal protein content. Three other groups were provided 50% of this protein level during pregnancy and/or lactation. The growth and metabolic state of the offspring was monitored...
November 3, 2017: Food & Function
https://www.readbyqxmd.com/read/29073628/transient-congenital-hypothyroidism-alters-gene-expression-of-glucose-transporters-and-impairs-glucose-sensing-apparatus-in-young-and-aged-offspring-rats
#3
Hanieh Gholami, Sajad Jeddi, Azita Zadeh-Vakili, Khadije Farrokhfall, Fatemeh Rouhollah, Maryam Zarkesh, Mahboubeh Ghanbari, Asghar Ghasemi
BACKGROUND/AIMS: Transient congenital hypothyroidism (TCH) could disturb carbohydrate metabolism in adulthood. Aging is associated with increased risk of type 2 diabetes. This study aims to address effects of TCH on mRNA expressions of glucose transporters (GLUTs) and glucokinase (GcK) in islets and insulin target tissues of aged offspring rats. METHODS: The TCH group received water containing 0.025% 6-propyl-2-thiouracil during gestation. Offspring from control and TCH groups (n=6 in each group) were followed until month 19...
October 27, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29056535/analysis-of-the-gck-gene-in-79-mody-type-2-patients-a-multicenter-turkish-study-mutation-profile-and-description-of-twenty-novel-mutations
#4
Ayça Aykut, Emin Karaca, Hüseyin Onay, Damla Gökşen, Şevki Çetinkalp, Erdal Eren, Betül Ersoy, Esra Papatya Çakır, Muammer Büyükinan, Cengiz Kara, Ahmet Anık, Birgül Kırel, Samim Özen, Tahir Atik, Şükran Darcan, Ferda Özkınay
Maturity onset diabetes is a genetic form of diabetes mellitus characterized by an early age at onset and several etiologic genes for this form of diabetes have been identified in many patients. Maturity onset diabetes type 2 [MODY2 (#125851)] caused by mutations in the glucokinase gene (GCK). Although its prevalence is not clear, it is estimated that 1%-2% of patients with diabetes have the monogenic form. The aim of this study was to evaluate the molecular spectrum of GCK gene mutations in 177 Turkish MODY type 2 patients...
October 19, 2017: Gene
https://www.readbyqxmd.com/read/29053815/insulin-immuno-neutralization-decreases-food-intake-in-chickens-without-altering-hypothalamic-transcripts-involved-in-food-intake-and-metabolism
#5
M Proszkowiec-Weglarz, J Dupont, N Rideau, C Gespach, J Simon, T E Porter
In mammals, insulin regulates blood glucose levels and plays a key regulatory role in appetite via the hypothalamus. In contrast, chickens are characterized by atypical glucose homeostasis, with relatively high blood glucose levels, reduced glucose sensitivity of pancreatic beta cells, and large resistance to exogenous insulin. The aim of the present study was to investigate in chickens the effects of 5 h fasting and 5 h insulin immuno-neutralization on hypothalamic mRNA levels of 23 genes associated with food intake, energy balance, and glucose metabolism...
September 20, 2017: Poultry Science
https://www.readbyqxmd.com/read/29044608/nutrient-sensing-in-pancreatic-islets-lessons-from-congenital-hyperinsulinism-and-monogenic-diabetes
#6
REVIEW
Ming Lu, Changhong Li
Pancreatic beta cells sense changes in nutrients during the cycles of fasting and feeding and release insulin accordingly to maintain glucose homeostasis. Abnormal beta cell nutrient sensing resulting from gene mutations leads to hypoglycemia or diabetes. Glucokinase (GCK) plays a key role in beta cell glucose sensing. As one form of congenital hyperinsulinism (CHI), activating mutations of GCK result in a decreased threshold for glucose-stimulated insulin secretion and hypoglycemia. In contrast, inactivating mutations of GCK result in diabetes, including a mild form (MODY2) and a severe form (permanent neonatal diabetes mellitus (PNDM))...
October 16, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/29031588/swertisin-rich-fraction-from-enicostema-littorale-ameliorates-hyperglycemia-and-hyperlipidemia-in-high-fat-fed-diet-and-low-dose-streptozotacin-induced-type-2-diabetes-mellitus-in-rats
#7
Priyanka Mokashi, Lokesh Kumar Bhatt, Aparna Khanna, Nancy Pandita
INTRODUCTION: Enicostema littorale blume (A. Raynal) is a traditional Indian plant belongs to the Gentianaceae family. A lot of research has been done on this plant for its antidiabetic activity. However, there are no reports on flavonoids from E. littorale for its antidiabetic activity and their mechanism of action. Thus, the aim of this study is to evaluate the antidiabetic activity of Swertisin rich flavonoid fraction (SRF) from Enicostema littorale blume and their mechanism of action...
October 11, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28967662/the-hypoglycemic-and-antioxidant-effects-of-polysaccharides-from-the-petioles-and-pedicels-of-euryale-ferox-salisb-on-alloxan-induced-hyperglycemic-mice
#8
Cheng-Ying Wu, Hong Wang, Xiao-Xiao He, Da-Wei Wu, Wei Yue, Qi-Nan Wu
The present study investigated the potential hypoglycemic and antioxidant effects of polysaccharides extracted from the petioles and pedicels of Euryale ferox Salisb. (EFPP) on alloxan-induced hyperglycemic mice. The EFPP had a total carbohydrate of 65.72 ± 2.81%, uronic acid of 4.56 ± 0.62% and protein of 0.58 ± 0.12%, with an average molecular weight from 1.02 kDa to 11.45 kDa and monosaccharide composition of Man, GlcA, Rha, Glc, Gal and Ara at a molar ratio of 0.12 : 0.01 : 9.57 : 0.41 : 1...
October 2, 2017: Food & Function
https://www.readbyqxmd.com/read/28934129/a-comprehensive-survey-of-the-roles-of-highly-disordered-proteins-in-type-2-diabetes
#9
Zhihua Du, Vladimir N Uversky
Type 2 diabetes mellitus (T2DM) is a chronic and progressive disease that is strongly associated with hyperglycemia (high blood sugar) related to either insulin resistance or insufficient insulin production. Among the various molecular events and players implicated in the manifestation and development of diabetes mellitus, proteins play several important roles. The Kyoto Encyclopedia of Genes and Genomes (KEGG) database has information on 34 human proteins experimentally shown to be related to the T2DM pathogenesis...
September 21, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28922661/lysophosphatidic-acid-inhibits-insulin-signaling-in-primary-rat-hepatocytes-via-the-lpa3-receptor-subtype-and-is-increased-in-obesity
#10
Susann Fayyaz, Lukasz Japtok, Fabian Schumacher, Dominik Wigger, Tim Julius Schulz, Kathrin Haubold, Erich Gulbins, Heinz Völler, Burkhard Kleuser
BACKGROUND/AIMS: Obesity is a main risk factor for the development of hepatic insulin resistance and it is accompanied by adipocyte hypertrophy and an elevated expression of different adipokines such as autotaxin (ATX). ATX converts lysophosphatidylcholine to lysophosphatidic acid (LPA) and acts as the main producer of extracellular LPA. This bioactive lipid regulates a broad range of physiological and pathological responses by activation of LPA receptors (LPA1-6). METHODS: The activation of phosphatidylinositide 3-kinases (PI3K) signaling (Akt and GSK-3ß) was analyzed via western blotting in primary rat hepatocytes...
2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/28905132/transethnic-insight-into-the-genetics-of-glycaemic-traits-fine-mapping-results-from-the-population-architecture-using-genomics-and-epidemiology-page-consortium
#11
Stephanie A Bien, James S Pankow, Jeffrey Haessler, Yinchang N Lu, Nathan Pankratz, Rebecca R Rohde, Alfred Tamuno, Christopher S Carlson, Fredrick R Schumacher, Petra Bůžková, Martha L Daviglus, Unhee Lim, Myriam Fornage, Lindsay Fernandez-Rhodes, Larissa Avilés-Santa, Steven Buyske, Myron D Gross, Mariaelisa Graff, Carmen R Isasi, Lewis H Kuller, JoAnn E Manson, Tara C Matise, Ross L Prentice, Lynne R Wilkens, Sachiko Yoneyama, Ruth J F Loos, Lucia A Hindorff, Loic Le Marchand, Kari E North, Christopher A Haiman, Ulrike Peters, Charles Kooperberg
AIMS/HYPOTHESIS: Elevated levels of fasting glucose and fasting insulin in non-diabetic individuals are markers of dysregulation of glucose metabolism and are strong risk factors for type 2 diabetes. Genome-wide association studies have discovered over 50 SNPs associated with these traits. Most of these loci were discovered in European populations and have not been tested in a well-powered multi-ethnic study. We hypothesised that a large, ancestrally diverse, fine-mapping genetic study of glycaemic traits would identify novel and population-specific associations that were previously undetectable by European-centric studies...
December 2017: Diabetologia
https://www.readbyqxmd.com/read/28891310/the-adverse-effects-of-perinatal-exposure-to-nonylphenol-on-carbohydrate-metabolism-in-male-offspring-rats
#12
J Yang, J Yu, P Wang, Y Luo, X F Yang, X S Yang, W M Li, J Xu
BACKGROUND: We sought to investigate the adverse effects of perinatal exposure to nonylphenol (NP) on carbohydrate metabolism of male offspring rats. METHODS: Thirty-two healthy pregnant Sprague Dawley rats were randomly divided into four groups, control normal diet group (C), NP normal diet group (NPN), control high-energy diet group (CH), and NP high-energy diet group (NPH). Both of the control groups were received a gavage of corn oil and the NP-groups were received NP (200 mg/kg/day) from gestational days 6 to post-natal day (PND) 21...
September 11, 2017: International Journal of Environmental Health Research
https://www.readbyqxmd.com/read/28891024/resveratrol-supplementation-improves-lipid-and-glucose-metabolism-in-high-fat-diet-fed-blunt-snout-bream
#13
Dingdong Zhang, Yanan Yan, Hongyan Tian, Guangzhen Jiang, Xiangfei Li, Wenbin Liu
Here, we aimed to investigate whether resveratrol (RSV) can ameliorate high-fat diet (HFD)-induced metabolic disorder in fish. Blunt snout bream (Megalobrama amblycephala) with average weight 27.99 ± 0.56 g were fed a normal fat diet (NFD, 5% fat, w/w), a HFD (11% fat), or a HFD supplemented with 0.04, 0.36, or 1.08% RSV for 10 weeks. As expected, fish fed a HFD developed hepatic steatosis, as shown by elevated hepatic and plasma triglycerides, raised whole body fat, intraperitoneal fat ratio and hepatosomatic index, and increased plasma alanine aminotransferase (ALT) and aspartate aminotransferase (AST)...
September 10, 2017: Fish Physiology and Biochemistry
https://www.readbyqxmd.com/read/28867816/dairy-product-consumption-interacts-with-glucokinase-gck-gene-polymorphisms-associated-with-insulin-resistance
#14
Marine S Da Silva, Dominic Chartrand, Marie-Claude Vohl, Olivier Barbier, Iwona Rudkowska
Dairy product intake and a person's genetic background have been reported to be associated with the risk of type 2 diabetes (T2D). The objective of this study was to examine the interaction between dairy products and genes related to T2D on glucose-insulin homeostasis parameters. A validated food frequency questionnaire, fasting blood samples, and glucokinase (GCK) genotypes were analyzed in 210 healthy participants. An interaction between rs1799884 in GCK and dairy intake on the homeostasis model assessment of insulin resistance was identified...
August 30, 2017: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/28862987/mody-in-ukraine-genes-clinical-phenotypes-and-treatment
#15
Evgenia Globa, Nataliya Zelinska, Lenka Elblova, Petra Dusatkova, Ondrej Cinek, Jan Lebl, Kevin Colclough, Sian Ellard, Stepanka Pruhova
BACKGROUND: Maturity-onset diabetes of the young (MODY) has not been previously studied in Ukraine. We investigated the genetic etiology in a selected cohort of patients with diabetes diagnosed before 18 years of age, and in their family members. METHODS: Genetic testing of the most prevalent MODY genes (GCK, HNF1A, HNF4A, HNF1B and INS) was undertaken for 36 families (39 affected individuals) by Sanger or targeted next generation sequencing. RESULTS: A genetic diagnosis of MODY was made in 15/39 affected individuals from 12/36 families (33%)...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28855921/diagnosis-and-treatment-of-hyperinsulinaemic-hypoglycaemia-and-its-implications-for-paediatric-endocrinology
#16
REVIEW
Huseyin Demirbilek, Sofia A Rahman, Gonul Gulal Buyukyilmaz, Khalid Hussain
Glucose homeostasis requires appropriate and synchronous coordination of metabolic events and hormonal activities to keep plasma glucose concentrations in a narrow range of 3.5-5.5 mmol/L. Insulin, the only glucose lowering hormone secreted from pancreatic β-cells, plays the key role in glucose homeostasis. Insulin release from pancreatic β-cells is mainly regulated by intracellular ATP-generating metabolic pathways. Hyperinsulinaemic hypoglycaemia (HH), the most common cause of severe and persistent hypoglycaemia in neonates and children, is the inappropriate secretion of insulin which occurs despite low plasma glucose levels leading to severe and persistent hypoketotic hypoglycaemia...
2017: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/28842611/evidence-based-tailoring-of-bioinformatics-approaches-to-optimize-methods-that-predict-the-effects-of-nonsynonymous-amino-acid-substitutions-in-glucokinase
#17
Daniela Šimčíková, Lucie Kocková, Kateřina Vackářová, Miroslav Těšínský, Petr Heneberg
Computational methods that allow predicting the effects of nonsynonymous substitutions are an integral part of exome studies. Here, we validated and improved their specificity by performing a comprehensive bioinformatics analysis combined with experimental and clinical data on a model of glucokinase (GCK): 8835 putative variations, including 515 disease-associated variations from 1596 families with diagnoses of monogenic diabetes (GCK-MODY) or persistent hyperinsulinemic hypoglycemia of infancy (PHHI), and 126 variations with available or newly reported (19 variations) data on enzyme kinetics...
August 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28783164/effect-of-sequence-variants-on-variance-in-glucose-levels-predicts-type-2-diabetes-risk-and-accounts-for-heritability
#18
Erna V Ivarsdottir, Valgerdur Steinthorsdottir, Maryam S Daneshpour, Gudmar Thorleifsson, Patrick Sulem, Hilma Holm, Snaevar Sigurdsson, Astradur B Hreidarsson, Gunnar Sigurdsson, Ragnar Bjarnason, Arni V Thorsson, Rafn Benediktsson, Gudmundur Eyjolfsson, Olof Sigurdardottir, Isleifur Olafsson, Sirous Zeinali, Fereidoun Azizi, Unnur Thorsteinsdottir, Daniel F Gudbjartsson, Kari Stefansson
Sequence variants that affect mean fasting glucose levels do not necessarily affect risk for type 2 diabetes (T2D). We assessed the effects of 36 reported glucose-associated sequence variants on between- and within-subject variance in fasting glucose levels in 69,142 Icelanders. The variant in TCF7L2 that increases fasting glucose levels increases between-subject variance (5.7% per allele, P = 4.2 × 10(-10)), whereas variants in GCK and G6PC2 that increase fasting glucose levels decrease between-subject variance (7...
September 2017: Nature Genetics
https://www.readbyqxmd.com/read/28727166/hepatocytes-contribute-to-residual-glucose-production-in-a-mouse-model-for-glycogen-storage-disease-type-ia
#19
Brenda S Hijmans, Andreas Boss, Theo H van Dijk, Maud Soty, Henk Wolters, Elodie Mutel, Albert K Groen, Terry G J Derks, Gilles Mithieux, Arend Heerschap, Dirk-Jan Reijngoud, Fabienne Rajas, Maaike H Oosterveer
It is a longstanding enigma how glycogen storage disease (GSD) type I patients retain a limited capacity for endogenous glucose production (EGP) despite the loss of glucose-6-phosphatase (G6Pase) activity. Insight into the source of residual EGP is of clinical importance given the risk of sudden death in these patients, but so far contradictory mechanisms have been proposed. We investigated G6Pase-independent EGP in hepatocytes isolated from a liver-specific GSD Ia mouse model (L-G6pc(-/-) mice), and performed real-time analysis of hepatic glucose fluxes and glycogen metabolism in L-G6pc(-/-) mice using state-of-the-art stable isotope methodologies...
July 20, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28726111/glucokinase-mutations-in-pediatric-patients-with-impaired-fasting-glucose
#20
C Aloi, A Salina, N Minuto, R Tallone, F Lugani, A Mascagni, O Mazza, M Cassanello, M Maghnie, G d'Annunzio
AIMS: Our aim was to detect the frequency of glucokinase (GCK) gene mutations in a cohort of patients with impaired fasting glucose and to describe the clinical manifestations of identified variants. We also aimed at predicting the effect of the novel missense mutations by computational approach. METHODS: Overall 100 unrelated Italian families with impaired fasting glucose were enrolled and subdivided into two cohorts according to strict and to mild criteria for diagnosis of maturity-onset diabetes of the young (MODY)...
October 2017: Acta Diabetologica
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