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https://www.readbyqxmd.com/read/27921429/-congenital-hyperinsulinism-loss-of-b-cell-self-control
#1
Jan Lebl, Klára Roženková, Štěpánka Průhová
Congenital hyperinsulinism is a serious blood glucose regulation defect that interferes with brain development, leading to mental retardation, neurological sequelae and secondary epilepsy and ultimately may be life-threatening. Congenital hyperinsulinism (CHI) is caused by genetic defects of regulation of insulin secretion that induce insulin oversecretion in intrauterine life and postnatally. The clinical consequence is fetal macrosomia and subsequently neonatal and infantile hypoglycaemia. The most severe form is caused by biallelic mutations of KCNJ11 and ABCC8 genes that encode both potassium channel subunits, whereas their heterozygous mutations as well as enzymatic defects (GLUD1, HADH, GCK) lead to milder presentation...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27913849/targeted-next-generation-sequencing-reveals-mody-in-up-to-6-5-of-antibody-negative-diabetes-cases-listed-in-the-norwegian-childhood-diabetes-registry
#2
Bente B Johansson, Henrik U Irgens, Janne Molnes, Paweł Sztromwasser, Ingvild Aukrust, Petur B Juliusson, Oddmund Søvik, Shawn Levy, Torild Skrivarhaug, Geir Joner, Anders Molven, Stefan Johansson, Pål R Njølstad
AIMS/HYPOTHESIS: MODY can be wrongly diagnosed as type 1 diabetes in children. We aimed to find the prevalence of MODY in a nationwide population-based registry of childhood diabetes. METHODS: Using next-generation sequencing, we screened the HNF1A, HNF4A, HNF1B, GCK and INS genes in all 469 children (12.1%) negative for both GAD and IA-2 autoantibodies and 469 antibody-positive matched controls selected from the Norwegian Childhood Diabetes Registry (3882 children)...
December 2, 2016: Diabetologia
https://www.readbyqxmd.com/read/27894621/glomerulocystic-kidney-presenting-as-a-unilateral-kidney-mass-in-a-newborn-with-tuberous-sclerosis-report-of-a-case-and-review-of-the-literature
#3
Miguel Rito, Rafael Adame Cabrera
Glomerular cysts are defined as a 2-3 times dilation of Bowman spaces and their presence in at least 5% of the glomeruli defines the kidneys as glomerulocystic (GCK). The association between cystic kidney disease and the tuberous sclerosis complex (TSC) is well known, but its presentation as a unilateral mass with glomerulocystic pattern is rare. We describe a case of an infant with a prenatal diagnosis of TSC, with a renal mass that was believed to be a renal tumor. A four-month-old infant with maternal history of TSC and prenatally diagnosed subependymal nodules and a right renal mass underwent nephrectomy...
November 18, 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/27852188/a-review-of-maturity-onset-diabetes-of-the-young-mody-and-challenges-in-the-management-of-glucokinase-mody
#4
Ramy H Bishay, Jerry R Greenfield
Maturity onset diabetes of the young (MODY), the most common monogenic form of diabetes, accounts for 1-2% of all diabetes diagnoses. Glucokinase (GCK)-MODY (also referred to as MODY2) constitutes 10-60% of all MODY cases and is inherited as an autosomal dominant heterozygous mutation, resulting in loss of function of the GCK gene. Patients with GCK-MODY generally have mild, fasting hyperglycaemia that is present from birth, are commonly leaner and diagnosed at a younger age than patients with type 2 diabetes, and rarely develop complications from diabetes...
November 21, 2016: Medical Journal of Australia
https://www.readbyqxmd.com/read/27836638/maternal-bisphenol-a-exposure-alters-rat-offspring-hepatic-and-skeletal-muscle-insulin-signaling-protein-abundance
#5
Kristina D Galyon, Farnoosh Farshidi, Guang Han, Michael G Ross, Mina Desai, Juanita K Jellyman
BACKGROUND: The obesogenic and diabetogenic effects of the environmental toxin bisphenol A during critical windows of development are well recognized. Liver and skeletal muscle play a central role in the control of glucose production, utilization, and storage. OBJECTIVES: We hypothesized that maternal bisphenol A exposure disrupts insulin signaling in rat offspring liver and skeletal muscle. We determined the protein expression of hepatic and skeletal muscle insulin signaling molecules including insulin receptor beta, its downstream target insulin receptor substrate 1 and glucose transporters (glucose transporter 2, glucose transporter 4), and hepatic glucose-regulating enzymes phosphoenolpyruvate carboxykinase and glucokinase...
November 9, 2016: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27809389/epidemiology-clinical-characteristics-and-genetic-etiology-of-neonatal-diabetes-in-japan
#6
Kazuaki Nagashima, Daisuke Tanaka, Nobuya Inagaki
Neonatal diabetes mellitus (NDM) is a rare but potentially devastating metabolic disorder, with reported incidence of one per 300,000-500,000 births generally, and hyperglycemia develops within the first 6 months of life (1-4). NDM is classified into two categories clinically. One is transient NDM (TNDM), in which insulin secretion is spontaneously recovered by several months of age, but sometimes recurs later, and the other is permanent NDM (PNDM), requiring lifelong medication. Recent molecular analysis of NDM identified at least 12 genetic abnormalities: chromosome 6q24, KCNJ11, ABCC8, INS, FOXP3, GCK, IPF1, PTF1A, EIF2AK3, GLUT2, HNF1β, and GLIS3 (5-22)...
November 3, 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/27802864/glucokinase-mutation-a-rare-cause-of-recurrent-hypoglycemia-in-adults-a-case-report-and-literature-review
#7
Oluremi N Ajala, David M Huffman, Ibrahim I Ghobrial
BACKGROUND: Hypoglycemia occurs frequently in patients both in the inpatient and outpatient settings. While most hypoglycemia unrelated to diabetes treatment results from excessive endogenous insulin action, rare cases involve functional and congenital mutations in glycolytic enzymes of insulin regulation. CASE: A 21-year-old obese woman presented to the emergency department with complaints of repeated episodes of lethargy, syncope, dizziness, and sweating. She was referred from an outside facility on suspicion of insulinoma, with severe hypoglycemia unresponsive to repeated dextrose infusions...
2016: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/27786288/an-inhibitor-of-fibroblast-growth-factor-receptor-1-fgfr1-promotes-late-stage-terminal-differentiation-from-ngn3-pancreatic-endocrine-progenitors
#8
Yzumi Yamashita-Sugahara, Masahito Matsumoto, Manami Ohtaka, Ken Nishimura, Mahito Nakanishi, Kohnosuke Mitani, Yasushi Okazaki
Human induced pluripotent stem cells (hiPSCs) provide a potential resource for regenerative medicine. To identify the signalling pathway(s) contributing to the development of functional β cells, we established a tracing model consisting of dual knock-in hiPSCs (INS-Venus/NGN3-mCherry) (hIveNry) expressing the fluorescent proteins Venus and mCherry under the control of intrinsic insulin (INS) and neurogenin 3 (NGN3) promoters, respectively. hIveNry iPSCs differentiated into NGN3- and mCherry-positive endocrine progenitors and then into Venus-positive β cells expressing INS, PDX1, NKX6...
October 27, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27727493/germinal-center-kinase-like-kinase-co-crystal-structure-reveals-a-swapped-activation-loop-and-c-terminal-extension
#9
Douglas Marcotte, Mia Rushe, Robert M Arduini, Christine Lukacs, Kateri Atkins, Xin Sun, Kevin Little, Michael Cullivan, Murugan Paramasivam, Thomas A Patterson, Thomas Hesson, Timothy D McKee, Tricia L May-Dracka, Zhili Xin, Andrea Bertolotti-Ciarlet, Govinda R Bhisetti, Joseph P Lyssikatos, Laura F Silvian
Germinal-center kinase-like kinase (GLK, Map4k3), a GCK-I family kinase, plays multiple roles in regulating apoptosis, amino acid sensing, and immune signaling. We describe here the crystal structure of an activation loop mutant of GLK kinase domain bound to an inhibitor. The structure reveals a weakly associated, activation-loop swapped dimer with more than 20 amino acids of ordered density at the carboxy-terminus. This C-terminal PEST region binds intermolecularly to the hydrophobic groove of the N-terminal domain of a neighboring molecule...
October 11, 2016: Protein Science: a Publication of the Protein Society
https://www.readbyqxmd.com/read/27659712/clinical-and-molecular-characterization-of-a-novel-ins-mutation-identified-in-patients-with-mody-phenotype
#10
Barbara Piccini, Rosangela Artuso, Lorenzo Lenzi, Monica Guasti, Giulia Braccesi, Federica Barni, Emilio Casalini, Sabrina Giglio, Sonia Toni
Correct diagnosis of Maturity-Onset Diabetes of the Young (MODY) is based on genetic tests requiring an appropriate subject selection by clinicians. Mutations in the insulin (INS) gene rarely occur in patients with MODY. This study is aimed at determining the genetic background and clinical phenotype in patients with suspected MODY. 34 patients with suspected MODY, negative for mutations in the GCK, HNF1α, HNF4α, HNF1β and PDX1 genes, were screened by next generation sequencing (NGS). A heterozygous INS mutation was identified in 4 members of the same family...
September 19, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27634015/genetic-confirmation-rate-in-clinically-suspected-maturity-onset-diabetes-of-the-young
#11
Amanda J Brahm, Grace Wang, Jian Wang, Adam D McIntyre, Henian Cao, Matthew R Ban, Robert A Hegele
OBJECTIVES: Maturity-onset diabetes of the young (MODY) is the most common form of monogenic diabetes, reportedly accounting for 2% to 5% of all cases of diabetes. In samples from Canadian patients referred for molecular genetic confirmation of a clinically suspected MODY, we determined the prevalence of likely disease-causing DNA variants in known MODY genes. METHODS: Between 1999 and 2015, our centre received requests from colleagues for DNA sequencing of 96 samples from unrelated Canadian patients with clinically suspected MODY...
December 2016: Canadian Journal of Diabetes
https://www.readbyqxmd.com/read/27633760/the-adipogenic-potential-of-cr-iii-a-molecular-approach-exemplifying-metal-induced-enhancement-of-insulin-mimesis-in-diabetes-mellitus-ii
#12
O Tsave, M P Yavropoulou, M Kafantari, C Gabriel, J G Yovos, A Salifoglou
Insulin resistance is identified through numerous pathophysiological conditions, such as Diabetes mellitus II, obesity, hypertension and other metabolic syndromes. Enhancement of insulin action and\or its complete replacement by insulin-enhancing or insulin-mimetic agents seems to improve treatment of metabolic diseases. Over the last decades, intensive research has targeted the investigation of such agents, with chromium emerging as an important inorganic cofactor involved in the requisite metabolic chemistry...
July 27, 2016: Journal of Inorganic Biochemistry
https://www.readbyqxmd.com/read/27618557/mst1-mst2-protein-kinases-regulation-and-physiologic-roles
#13
Jacob A Galan, Joseph Avruch
The MST1 and MST2 protein kinases comprise the GCK-II subfamily of protein kinases. In addition to their amino-terminal kinase catalytic domain, related to that of the Saccharomyces cerevisiae protein kinase Ste20, their most characteristic feature is the presence near the carboxy terminus of a unique helical structure called a SARAH domain; this segment allows MST1/MST2 to homodimerize and to heterodimerize with the other polypeptides that contain SARAH domains, the noncatalytic polypeptides RASSF1-6 and Sav1/WW45...
October 4, 2016: Biochemistry
https://www.readbyqxmd.com/read/27571483/the-genetic-architecture-of-diabetes-in-pregnancy-implications-for-clinical-practice
#14
Jeffrey W Kleinberger, Kristin A Maloney, Toni I Pollin
The genetic architecture of diabetes mellitus in general and in pregnancy is complex, owing to the multiple types of diabetes that comprise both complex/polygenic forms and monogenic (largely caused by a mutation in a single gene) forms such as maturity-onset diabetes of the young (MODY). Type 1 diabetes (T1D) and type 2 diabetes (T2D) have complex genetic etiologies, with over 40 and 90 genes/loci, respectively, implicated that interact with environmental/lifestyle factors. The genetic etiology of gestational diabetes mellitus has largely been found to overlap that of T2D...
August 29, 2016: American Journal of Perinatology
https://www.readbyqxmd.com/read/27554451/the-gckr-gene-polymorphism-rs780094-is-a-risk-factor-for-gestational-diabetes-in-a-brazilian-population
#15
Mauren Isfer Anghebem-Oliveira, Susan Webber, Dayane Alberton, Emanuel Maltempi de Souza, Giseli Klassen, Geraldo Picheth, Fabiane Gomes de Moraes Rego
BACKGROUND: The glucokinase regulatory protein (GCKR) regulates the activity of the glucokinase (GCK), which plays a key role in glucose homeostasis. Genetic variants in GCK have been associated with diabetes and gestational diabetes (GDM). Due to the relationship between GCKRP and GCK, polymorphisms in GCKR are also candidates for genetic association with GDM. The aim of this study was to evaluate the association between the GCKR rs780094 polymorphism and GDM in a Brazilian population...
August 24, 2016: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/27520373/glucokinase-expression-is-regulated-by-glucose-through-o-glcnac-glycosylation
#16
Steffi F Baldini, Agata Steenackers, Stéphanie Olivier-Van Stichelen, Anne-Marie Mir, Marlène Mortuaire, Tony Lefebvre, Céline Guinez
Blood glucose fluctuates with the fasting-feeding cycle. One of the liver's functions is to maintain blood glucose concentrations within a physiological range. Glucokinase (GCK) or hexokinase IV, is the main enzyme that regulates the flux and the use of glucose in the liver leading to a compensation of hyperglycemia. In hepatocytes, GCK catalyzes the phosphorylation of glucose into glucose-6-phosphate. This critical enzymatic reaction is determinant for the metabolism of glucose in the liver which includes glycogen synthesis, glycolysis, lipogenesis and gluconeogenesis...
September 16, 2016: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/27512465/monogenic-diabetes-and-pregnancy
#17
REVIEW
Rinki Murphy
Monogenic diabetes is frequently mistakenly diagnosed as either type 1 or type 2 diabetes, yet accounts for approximately 1-2% of diabetes. Identifying monogenic forms of diabetes has practical implications for specific therapy, screening of family members and genetic counselling. The most common forms of monogenic diabetes are due to glucokinase (GCK), hepatocyte nuclear factor (HNF)-1A and HNF-4A, HNF-1B, m.3243A>G gene defects. Practical aspects of their recognition, diagnosis and management are outlined, particularly as they relate to pregnancy...
September 2015: Obstetric Medicine
https://www.readbyqxmd.com/read/27422385/sex-specific-control-of-fat-mass-and-counterregulation-by-hypothalamic-glucokinase
#18
Laura K M Steinbusch, Alexandre Picard, Marion S Bonnet, Davide Basco, Gwenaël Labouèbe, Bernard Thorens
Glucokinase (Gck) is a critical regulator of glucose-induced insulin secretion by pancreatic β-cells. It has been suggested to also play an important role in glucose signaling in neurons of the ventromedial hypothalamic nucleus (VMN), a brain nucleus involved in the control of glucose homeostasis and feeding. To test the role of Gck in VMN glucose sensing and physiological regulation, we studied mice with genetic inactivation of the Gck gene in Sf1 neurons of the VMN (Sf1Gck(-/-) mice). Compared with control littermates, Sf1Gck(-/-) mice displayed increased white fat mass and adipocyte size, reduced lean mass, impaired hypoglycemia-induced glucagon secretion, and a lack of parasympathetic and sympathetic nerve activation by neuroglucopenia...
October 2016: Diabetes
https://www.readbyqxmd.com/read/27404933/-a-rare-cause-of-diabetes-mellitus
#19
Chrysi Koliaki, Birgit Knebel, Fausto Machicao, Michael Roden, Karsten Müssig
UNLABELLED: Medical history and clinical examination: We report on a 52-year-old lean female patient with diabetes mellitus, treated with various glucose-lowering medications including insulin for 6 years. Both her mother and great-grandmother were also diagnosed with diabetes. At admission, she presents with good glycemic control and no signs of diabetes-related comorbidities. LABORATORY TESTS: HbA1c is 6 %. On the basis of positive family history for diabetes, normal body weight and negative antibodies against islet-cell antigens, we perform blood molecular genetic analyses with the suspicion of a genetic form of diabetes...
July 2016: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/27377425/obesity-and-associated-lifestyles-modify-the-effect-of-glucose-metabolism-related-genetic-variants-on-impaired-glucose-homeostasis-among-postmenopausal-women
#20
Su Yon Jung, Eric M Sobel, Jeanette C Papp, Carolyn J Crandall, Alan N Fu, Zuo-Feng Zhang
PURPOSE: Impaired glucose metabolism-related genetic variants likely interact with obesity-modifiable factors in response to glucose intolerance, yet their interconnected pathways have not been fully characterized. METHODS: With data from 1,027 postmenopausal participants of the Genomics and Randomized Trials Network study and 15 single-nucleotide polymorphisms (SNPs) associated with glucose homeostasis, we assessed whether obesity, physical activity, and high dietary fat intake interact with the SNP-glucose variations...
September 2016: Genetic Epidemiology
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