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Xin-Na Ji, Cui-Juan Xu, Zhi-Jie Gao, Shu-Hua Chen, Ke-Ming Xu, Qian Chen
OBJECTIVE: To investigate the clinical features, diagnosis and treatment of glucose transporter 1 deficiency syndrome (GLUT1-DS), as well as the diagnostic value of movement disorders. METHODS: The clinical data of four children with GLUT1-DS were collected, and their clinical features, treatment, and follow-up results were analyzed. RESULTS: There were two boys and two girls, with an age of onset of 2-15 months. Clinical manifestations included movement disorders, seizures, and developmental retardation...
March 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
Rita Schüler, Nicole Seebeck, Martin A Osterhoff, Veronica Witte, Agnes Flöel, Andreas Busjahn, Alexander Jais, Jens C Brüning, Turid Frahnow, Stefan Kabisch, Olga Pivovarova, Silke Hornemann, Michael Kruse, Andreas F H Pfeiffer
OBJECTIVE: Reduction of brain glucose transporter GLUT1 results in severe neurological dysfunction. VEGF is required to restore and maintain brain glucose uptake across the blood brain barrier via GLUT1, which was shown to be acutely diminished in response to a high fat diet (HFD) in mice. The genetic and HFD-related regulation and association of VEGF and GLUT1 (SLC2A1) in humans was investigated in the NUtriGenomic Analysis in Twins (NUGAT) study. METHODS: 92 healthy and non-obese twins were standardized to a high-carbohydrate low-fat diet for 6 weeks before switched to a 6-week HFD under isocaloric conditions...
February 12, 2018: Molecular Metabolism
E Coudert, C Praud, J Dupont, S Crochet, E Cailleau-Audouin, T Bordeau, E Godet, A Collin, C Berri, S Tesseraud, S Métayer-Coustard
Glucose transport into cells is the first limiting step for the regulation of glucose homeostasis. In mammals, it is mediated by a family of facilitative glucose transporters (GLUTs) (encoded by SLC2A* genes), with a constitutive role (GLUT1), or insulin-sensitive transporters (GLUT4, GLUT8 and GLUT12). Compared to mammals, the chicken shows high levels of glycaemia and relative insensitivity to exogenous insulin. To date, only GLUT1, -8 and -12 have been described in chicken skeletal muscles but not fully characterized, whereas GLUT4 was reported as lacking...
February 1, 2018: Journal of Animal Science
S Santasusagna, I Moreno, A Navarro, C Muñoz, F Martinez, R Hernández, J J Castellano, M Monzo
PURPOSE: Increasing evidence shows that altered metabolism is a critical hallmark in colon cancer. There is a strong need to explore the molecular mechanisms underlying cancer metabolism. Whether the aberrant expression of microRNAs contributes to cancer metabolism is not fully understood. miR-328 is a putative potential target of SLC2A1, but the regulating mechanism between them remains unknown. We have examined whether miR-328 directly regulates SLC2A1/GLUT1 expression in colon cancer cells...
January 26, 2018: Clinical & Translational Oncology
Lidia Di Vito, Laura Licchetta, Tommaso Pippucci, Sara Baldassari, Carlotta Stipa, Barbara Mostacci, Lara Alvisi, Paolo Tinuper, Francesca Bisulli
No abstract text is available yet for this article.
January 3, 2018: Epilepsy & Behavior: E&B
Armond Daci, Adnan Bozalija, Fisnik Jashari, Shaip Krasniqi
Monogenic and polygenic mutations are important contributors in patients suffering from epilepsy, including metabolic epilepsies which are inborn errors of metabolism with a good respond to specific dietetic treatments. Heterozygous variation in solute carrier family 2, facilitated glucose transporter member 1 (SLC2A1) and mutations of the GLUT1/SLC2A2 gene results in the failure of glucose transport, which is related with a glucose type-1 transporter (GLUT1) deficiency syndrome (GLUT1DS). GLUT1 deficiency syndrome is a treatable disorder of glucose transport into the brain caused by a variety of mutations in the SLC2A1 gene which are the cause of different neurological disorders also with different types of epilepsy and related clinical phenotypes...
January 5, 2018: International Journal of Molecular Sciences
Li Hui, Guo Shuangshuang, Yu Jianning, Shi Zhendan
Current studies have revealed that aging is a negative factor that suppresses granulosa cell functions and causes low fertility in women. However, the difference in gene expression between normal and aging granulosa cells remains undefined. Therefore, the aim of this study was to investigate the gene expression profiles of granulosa cells during aging. Granulosa cells from young healthy porcine ovaries were aged in vitro by prolonging the culture time (for 48h). First, the extracellular ultrastructure was observed by scanning electron microscopy followed by RNA-seq and KEGG pathway analysis...
November 14, 2017: Oncotarget
Nevyana Ivanova, Valentina Peycheva, Kunka Kamenarova, Dalia Kancheva, Irina Tsekova, Iliana Aleksandrova, Dimitrina Hristova, Ivan Litvinenko, Diana Todorova, Gergana Sarailieva, Petya Dimova, Veselin Tomov, Veneta Bozhinova, Vanio Mitev, Radka Kaneva, Albena Jordanova
PURPOSE: GLUT1-deficiency syndrome (GLUT1-DS) is a metabolic brain disorder with a great clinical heterogeneity underlined by various mutations in the SLC2A1 gene which make the clinical and genetic diagnosis complicated. The purpose of our study is to investigate the genetic defects affecting the SLC2A1 gene in a group of Bulgarian patients with genetic generalized epilepsy (GGE), and to bring new insights into the molecular pathology of GLUT1-DS that would strengthen the genotype-phenotype correlations and improve the diagnostic procedure...
January 2018: Seizure: the Journal of the British Epilepsy Association
E Gómez, M J Sánchez-Calabuig, D Martin, S Carrocera, A Murillo, E Correia-Alvarez, P Herrero, N Canela, A Gutiérrez-Adán, S Ulbrich, M Muñoz
Endometrial cell co-culture (ECC) with single embryo may reflect endometrium responses in vivo. Bovine Day-6 in vitro-produced morulae were cultured until Day-8 in modified synthetic oviductal fluid (mSOF), or on the epithelial side of ECC. Expression of epithelial- and stromal-cell transcripts was analyzed by RT-PCR in ECC with one male (ME) or female embryo (FE). Concentrations of ARTEMIN (ARTN) and total protein were determined in epithelial cell-conditioned medium. ECCs yielded embryos with more cells in the inner cell mass than embryos cultured in mSOF...
March 1, 2018: Theriogenology
Vasileios Siokas, Anatoli Fotiadou, Efthimios Dardiotis, Maria G Kotoula, Sophia V Tachmitzi, Dimitrios Z Chatzoulis, Elias Zintzaras, Ioannis Stefanidis, Evangelia E Tsironi
Backround: Genetic variants are implicated in the development of diabetic retinopathy (DR) and nephropathy (DN). The role of solute carrier family 2-facilitated glucose transporter member 1 (SLC2A1), also known as glucose transporter (GLUT1), on DR and DN remain controversial. OBJECTIVE: Examination of the influence of tag SLC2A1 single-nucleotide polymorphisms (SNPs) on the development of DR and DN during the course of type 2 diabetes mellitus (T2DM). METHODS: A total of 169 patients with DR or DN, 107 uncomplicated T2DM patients, and 315 controls were recruited and genotyped for 14 SLC2A1 tag SNPs...
December 6, 2017: Ophthalmic Research
Laura Ortega-Moreno, Beatriz G Giráldez, Victor Soto-Insuga, Rebeca Losada-Del Pozo, María Rodrigo-Moreno, Cristina Alarcón-Morcillo, Gema Sánchez-Martín, Esther Díaz-Gómez, Rosa Guerrero-López, José M Serratosa
Pediatric epilepsies are a group of disorders with a broad phenotypic spectrum that are associated with great genetic heterogeneity, thus making sequential single-gene testing an impractical basis for diagnostic strategy. The advent of next-generation sequencing has increased the success rate of epilepsy diagnosis, and targeted resequencing using genetic panels is the a most cost-effective choice. We report the results found in a group of 87 patients with epilepsy and developmental delay using targeted next generation sequencing (custom-designed Haloplex panel)...
2017: PloS One
Jessica F Briffa, Sogand S Hosseini, Melanie Tran, Karen M Moritz, James S M Cuffe, Mary E Wlodek
The placenta plays a major role in the development of fetal growth restriction, which affects 10% of pregnancies and contributes to chronic adult disease risk. We have reported that female rats born small develop cardiometabolic dysfunction only during pregnancy. The physiological tests performed during pregnancy induced a maternal stress response as indicated by increased maternal corticosterone concentrations. This stress effected placental growth compared to females who were unhandled during pregnancy. Maternal stress and growth restriction independently program F2 offspring metabolic dysfunction...
November 2017: Placenta
Jun Yi, Xiang Wei, Xinqiang Li, Lei Wan, Jiashou Dong, Rui Wang
Lung cancer is one of the most common malignancies and the leading cause of cancer-related deaths worldwide. Although many oncogenes and tumor suppressors have been uncovered in the past decades, the pathogenesis and mechanisms of lung tumorigenesis and progression are unclear. The advancement of high-throughput sequencing technique and bioinformatics methods has led to the discovery of some unknown important protein-coding genes or noncoding RNAs in human cancers. In this study, we tried to identify and validate lung cancer driver genes to facilitate the diagnosis and individualized treatment of patients with this disease...
January 2018: Anti-cancer Drugs
Justin Goodwin, Michael L Neugent, Jung-Whan Kim
Cancer cells consume high amounts of glucose for their cellular bioenergetic and anabolic requirements, relying on glucose to fuel their growth. We recently reported that lung squamous cell carcinoma, a major subtype of non-small cell lung cancer (NSCLC), exhibits remarkably elevated glucose transporter GLUT1 (encoded by SLC2A1) expression and glucose dependency, while another subtype of NSCLC, lung adenocarcinoma, shows significant glucose independence. Our findings highlight the metabolic heterogeneity of glucose metabolism among lung cancer subtypes, which can be exploited for targeted lung cancer therapies...
2017: Molecular & Cellular Oncology
Kameryn M Butler, Cristina da Silva, John J Alexander, Madhuri Hegde, Andrew Escayg
BACKGROUND: The contribution of genetic factors to epilepsy has long been recognized and has been estimated to play a role in 70% to 80% of cases. Identification of a pathogenic variant can help families to better cope with the disorder, allows for genetic counseling to determine recurrence risk, and in some cases, can directly influence treatment options. In this study, we determined the diagnostic yield of a clinical gene panel applied to an unselected cohort of epilepsy patients. METHODS: Variant reports from 339 clinically referred epilepsy patients screened using a 110-gene panel were retrospectively reviewed...
December 2017: Pediatric Neurology
Xingshen Sun, Yaling Yi, Weiliang Xie, Bo Liang, Michael C Winter, Nan He, Xiaoming Liu, Meihui Luo, Yu Yang, Katie Larson Ode, Aliye Uc, Andrew W Norris, John F Engelhardt
Although β-cell dysfunction in cystic fibrosis (CF) leads to diabetes, the mechanism by which the cystic fibrosis transmembrane conductance regulator (CFTR) channel influences islet insulin secretion remains debated. We investigated the CFTR-dependent islet-autonomous mechanisms affecting insulin secretion by using islets isolated from CFTR knockout ferrets. Total insulin content was lower in CF as compared with wild-type (WT) islets. Furthermore, glucose-stimulated insulin secretion (GSIS) was impaired in perifused neonatal CF islets, with reduced first, second, and amplifying phase secretion...
October 1, 2017: Endocrinology
M Boutinaud, N Isaka, E Gandemer, P Lamberton, S Wiart, A I De Prado Taranilla, L M Sordillo, V Lollivier
The inhibition of prolactin release using cabergoline, a dopamine agonist, is an effective strategy to accelerate the changes in mammary secretion composition after drying-off. The objective of this study was to determine how cabergoline may affect mammary tissue remodeling during early involution. Holstein dairy cows were treated with either a single i.m. administration of 5.6 mg of cabergoline (Velactis, Ceva Santé Animale, Libourne, France, n = 7) or placebo (n = 7) at the time of drying-off. Mammary biopsy samples were collected 1 wk before drying-off (d -6), after 30 h of milk accumulation (d 1), and again 8 d following drying-off (d 8) to determine changes in gene expression, lactoferrin content, and cell turnover...
September 27, 2017: Journal of Dairy Science
Zhengyu Zhang, Yasuo Uchida, Satoshi Hirano, Daisuke Ando, Yoshiyuki Kubo, Seppo Auriola, Shin-Ichi Akanuma, Ken-Ichi Hosoya, Arto Urtti, Tetsuya Terasaki, Masanori Tachikawa
The purpose of this study was to determine absolute protein expression levels of transporters at the porcine inner blood-retinal barrier (BRB) and to compare the transporter protein expression quantitatively among the inner BRB, outer BRB, blood-brain barrier (BBB), and blood-cerebrospinal fluid barrier (BCSFB). Crude membrane fractions of isolated retinal capillaries (inner BRB) and isolated retinal pigment epithelium (RPE, outer BRB) were prepared from porcine eyeballs, while plasma membrane fractions were prepared from isolated porcine brain capillaries (BBB) and isolated choroid plexus (BCSFB)...
November 6, 2017: Molecular Pharmaceutics
Srirupa Roy, Jayanta Debnath
No abstract text is available yet for this article.
September 21, 2017: Autophagy
Lucas Carminatti Pantaleão, Gilson Murata, Caio Jordão Teixeira, Tanyara Baliani Payolla, Junia Carolina Santos-Silva, Daniella Esteves Duque-Guimaraes, Frhancielly S Sodré, Camilo Lellis-Santos, Juliana Camargo Vieira, Dailson Nogueira de Souza, Patrícia Rodrigues Gomes, Sandra Campos Rodrigues, Gabriel Forato Anhe, Silvana Bordin
We investigated the effect of dexamethasone during the last week of pregnancy on glucose and lipid metabolism in male offspring. Twelve-week old offspring were evaluated after fasting for 12-hours (physiological) and 60-hours (prolonged). Physiological fasting resulted in glucose intolerance, decreased glucose clearance after pyruvate load and increased PEPCK expression in rats born to dexamethasone-treated mothers (DEX). Prolonged fasting resulted in increased glucose tolerance and increased glucose clearance after pyruvate load in DEX...
September 4, 2017: Scientific Reports
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