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glucose transporter 1 deficiency

Naila Ismayilova, Yael Hacohen, Andrew D MacKinnon, Frances Elmslie, Antonia Clarke
Glucose transporter type 1 (GLUT1) deficiency syndrome is a well recognised genetic neurometabolic disorder typically presenting with progressive encephalopathy, acquired microcephaly and drug-resistant epilepsy. Imaging is normal in the majority. Here we describe a 5-month-old boy who presented with motor delay, myoclonic jerks and tonic-clonic seizures. His MRI brain scan revealed confluent symmetrical T2 hyperintense signal abnormality in both anterior frontal lobes and delayed myelination. Neurometabolic screen revealed low CSF glucose and lactate levels...
February 9, 2018: European Journal of Paediatric Neurology: EJPN
Zhenhua Wu, Fan Yang, Shan Jiang, Xiaoyu Sun, Jialin Xu
Endoplasmic reticulum (ER) stress is highly associated with liver steatosis. B-cell receptor-associated protein 31 (BAP31) has been reported to be involved in ER homeostasis, and plays key roles in hepatic lipid metabolism in high-fat diet-induced obese mice. However, whether BAP31 modulates hepatic lipid metabolism via regulating ER stress is still uncertain. In this study, wild-type and liver-specific BAP31-depleted mice were administrated with ER stress activator of Tunicamycin, the markers of ER stress, liver steatosis, and the underlying molecular mechanisms were determined...
August 4, 2018: International Journal of Molecular Sciences
Henner Koch, Yvonne G Weber
The glucose transporter type 1 (Glut1) is the most important energy carrier of the brain across the blood-brain barrier. In the early nineties, the first genetic defect of Glut1 was described and known as the Glut1 deficiency syndrome (Glut1-DS). It is characterized by early infantile seizures, developmental delay, microcephaly, and ataxia. Recently, milder variants have also been described. The clinical picture of Glut1 defects and the understanding of the pathophysiology of this disease have significantly grown...
July 31, 2018: Epilepsy & Behavior: E&B
Kim E M van Kan, Bianca Panis
BACKGROUND: Glucose transporter type 1 (GLUT1) enables glucose to pass through the blood-brain barrier. A hereditary deficiency of this protein may lead to clinical symptoms when blood glucose levels are decreasing. CASE DESCRIPTION: A 7-year-old girl with therapy-resistant childhood absence epilepsy presented with an exercise and fasting induced dystonic and atactic movement pattern. The movement pattern disappears postprandial. Based on a reduced glucose in the liquor, and also a reduced liquor glucose/serum glucose ratio, the diagnosis of GLUT1 deficiency syndrome was considered...
July 13, 2018: Nederlands Tijdschrift Voor Geneeskunde
Csilla Ari, Zsolt Kovács, Cem Murdun, Andrew P Koutnik, Craig R Goldhagen, Christopher Rogers, David Diamond, Dominic P D'Agostino
BACKGROUND: Ketogenic diet (KD) and exogenous ketone supplements can evoke sustained ketosis, which may modulate sleep and sleep-like effects. However, no studies have been published examining the effect of ketosis on the onset of general isoflurane induced anesthesia. Therefore, we investigated the effect of the KD and different exogenous ketogenic supplements on the onset of akinesia induced by inhalation of isoflurane. METHODS: We used a high fat, medium protein and low carbohydrate diet (KD) chronically (10 weeks) in the glucose transporter 1 (GLUT1) deficiency (G1D) syndrome mice model and sub-chronically (7 days) in Sprague-Dawley (SPD) rats...
July 18, 2018: BMC Anesthesiology
Natasha E Schoeler, Costin Leu, Simona Balestrini, Jonathan M Mudge, Charles A Steward, Adam Frankish, Mary-Anne Leung, Mark Mackay, Ingrid Scheffer, Ruth Williams, Josemir W Sander, J Helen Cross, Sanjay M Sisodiya
OBJECTIVE: With the exception of specific metabolic disorders, predictors of response to ketogenic dietary therapies (KDTs) are unknown. We aimed to determine whether common variation across the genome influences the response to KDT for epilepsy. METHODS: We genotyped individuals who were negative for glucose transporter type 1 deficiency syndrome or other metabolic disorders, who received KDT for epilepsy. Genotyping was performed with the Infinium HumanOmniExpressExome Beadchip...
July 16, 2018: Epilepsia
O Tsave, M P Yavropoulou, M Kafantari, C Gabriel, J G Yovos, A Salifoglou
Diabetes mellitus comprises a group of metabolic abnormalities due to insulin deficiency and/or resistance. Obesity contributes to diabetes, with a strong causal relationship existing between diabetes and insulin resistance, especially in patients with Diabetes mellitus II. Adipocytes emerge as key constituents of adipose tissue physiology. In their pre-mature form to mature state transformation, adipocytes fully exemplify one of the key adipogenic actions of insulin. Poised to a) gain insight into adipogenesis leading to antidiabetic factors, and b) investigate adipogenesis through careful examination of insulin contributions to interwoven mechanistic pathways, a systematic comparative study was launched involving well-defined metal-citrates (zinc and vanadium), the chemical reactivity of which was in line with their chemistry under physiological conditions...
May 1, 2018: Journal of Inorganic Biochemistry
Masamichi Hirose, Naoko Matsushita, Nanae Ishida, Miho Ibi, Maki Saito
 It is well-known that metabolic remodeling occurs in the presence of cardiomyopathy induced by cardiac ischemia and hypertrophy, and diabetes mellitus. It is also known that a novel cardiac glucose transporter, sodium-glucose co-transporter 1 (SGLT1), is expressed in the human heart. However, the role of SGLT1 in the development of cardiac metabolic remodeling is still unclear. Recent studies demonstrated that SGLT1 activation improves ischemia-reperfusion-induced cardiac injury, and increased SGLT1 gene expression is observed in hypertrophic, ischemic, and diabetic cardiomyopathy in human hearts...
2018: Yakugaku Zasshi: Journal of the Pharmaceutical Society of Japan
Mahira Hashim, Norihide Yokoi, Harumi Takahashi, Ghupurjan Gheni, Oduori S Okechi, Tomohide Hayami, Naoya Murao, Shihomi Hidaka, Kohtaro Minami, Akira Mizoguchi, Susumu Seino
β-cell-β-cell interactions are required for normal regulation of insulin secretion. We previously found that formation of spheroid clusters (called K20-SC) from MIN6-K20 clonal β-cells lacking incretin-induced insulin secretion (IIIS) under monolayer culture (called K20-MC) drastically induced incretin responsiveness. Here we investigated the mechanism by which an incretin unresponsive state transforms to an incretin responsive state using K20-SC as a model. Glutamate production by glucose through the malate-aspartate shuttle and cAMP signaling, both of which are critical for IIIS, were enhanced in K20-SC...
June 28, 2018: Diabetes
Natalie A Terry, Lucie V Ngaba, Benjamin J Wilkins, Danielle Pi, Nishi Gheewala, Klaus H Kaestner
Infants with congenital diarrheal disorders caused by enteroendocrine cell dysgenesis, or the loss of intestinal endocrine cells, by itself causes severe malabsorptive diarrhea though the mechanism is unknown. The transcription factor 'Aristaless-related homeobox' (Arx), is specifically expressed in intestinal endocrine cells. This study seeks to characterize the early malabsorptive phenotype of mice deficient for Arx using cell-type specific gene ablation in Villin-Cre; ArxloxP/Y (Arxint ) mice. In neonatal mice, loss of intestinal Arx caused loss of intestinal hormones, such as cholecystokinin (CCK), secretin (Sct), neurotensin (Nts), glucose-dependent insulinotropic peptide (GIP), glucagon-like peptide 1 (GLP-1) and GLP-2 but also upregulation of somatostatin (Sst)...
June 28, 2018: American Journal of Physiology. Gastrointestinal and Liver Physiology
Eugen Boltshauser, Konrad P Weber
This chapter deals with chemical and hematologic investigations which are often considered in the diagnostic workup of subacute to chronic cerebellar ataxias. Relevant investigations in blood (serum, plasma), urine, and cerebrospinal fluid are discussed. Particular attention is paid to early diagnosis of treatable metabolic ataxias (such as abetalipoproteinemia, coenzyme Q10 deficiency, cerebrotendinous xanthomatosis, glucose transporter type 1 deficiency, Refsum disease, and vitamin E deficiency), but autoimmune ataxias, other vitamin deficiencies, and endocrine disorders should also be kept in mind...
2018: Handbook of Clinical Neurology
Mario Mastrangelo
This review offers an update on a group of inborn errors of metabolism causing severe epilepsy with the onset in pediatric age (but also other neurological manifestations such as developmental delay or movement disorders) with available effective or potentially effective treatments. The main pathogenic and clinical features and general recommendations for the diagnostic and therapeutic workup of the following disorders are discussed: vitamin B6 -dependent epilepsies, cerebral folate deficiency, congenital disorders of serine metabolism, biotinidase deficiency, inborn errors of creatine metabolism, molybdenum cofactor deficiency, and glucose transporter 1 deficiency...
January 2018: Journal of Pediatric Neurosciences
Idil Hanci, Christoph Kamm, Marlieke Scholten, Lorenzo P Roncoroni, Yvonne Weber, Rejko Krüger, Christian Plewnia, Alireza Gharabaghi, Daniel Weiss
Treatment outcomes from pallidal deep brain stimulation are highly heterogeneous reflecting the phenotypic and etiologic spectrum of dystonia. Treatment stratification to neurostimulation therapy primarily relies on the phenotypic motor presentation; however, etiology including genetic factors are increasingly recognized as modifiers of treatment outcomes. Here, we describe a 53 year-old female patient with a progressive generalized dystonia since age 25. The patient underwent deep brain stimulation of the globus pallidus internus (GPi-DBS) at age 44...
2018: Frontiers in Neurology
Fang Chen, Yingkun He, Pengwen Wang, Peng Wei, Huili Feng, Yingxue Rao, Jing Shi, Jinzhou Tian
Reduced glucose utilization and deficient energy metabolism that occur in the early stages of Alzheimer's disease correlate with impaired cognition, and this information is evidence that Alzheimer's disease is a metabolic disease that is associated with brain insulin/insulin-like growth factor resistance. This research aimed to investigate the effects of Banxia Xiexin decoction (BXD) on cognitive deficits in APPswe/PS1dE9 double transgenic mice and verify the hypothesis that BXD treatment improves cognitive function via improving insulin signalling, glucose metabolism and synaptic plasticity in the hippocampus of APPswe/PS1dE9 double transgenic mice...
January 2018: International Journal of Immunopathology and Pharmacology
Maarten D Verhoeven, Jasmine M Bracher, Jeroen G Nijland, Jonna Bouwknegt, Jean-Marc G Daran, Arnold J M Driessen, Antonius J A van Maris, Jack T Pronk
Cas9-assisted genome editing was used to construct an engineered glucose-phosphorylation-negative S. cerevisiae strain, expressing the Lactobacillus plantaruml-arabinose pathway and the Penicillium chrysogenum transporter PcAraT. This strain, which showed a growth rate of 0.26 h-1 on l-arabinose in aerobic batch cultures, was subsequently evolved for anaerobic growth on l-arabinose in the presence of d-glucose and d-xylose. In four strains isolated from two independent evolution experiments the galactose-transporter gene GAL2 had been duplicated, with all alleles encoding Gal2N376T or Gal2N376I substitutions...
September 1, 2018: FEMS Yeast Research
Kyoko Mashima, Shinichi Takahashi, Kazushi Minami, Yoshikane Izawa, Takato Abe, Naoki Tsukada, Takako Hishiki, Makoto Suematsu, Mayumi Kajimura, Norihiro Suzuki
Oxidative stress plays an important role in the onset and progression of Parkinson disease. Although released dopamine at the synaptic terminal is mostly reabsorbed by dopaminergic neurons, some dopamine is presumably taken up by astroglia. This study examined the dopamine-induced astroglial protective function through the activation of the pentose-phosphate pathway (PPP) to reduce reactive oxygen species (ROS). In vitro experiments were performed using striatal neurons and cortical or striatal astroglia prepared from Sprague-Dawley rats or C57BL/6 mice...
January 2018: ASN Neuro
Jun-Ho Cho, Goo-Young Kim, Brian C Mansfield, Janice Y Chou
Glycogen storage disease type Ia (GSD-Ia) deficient in glucose-6-phosphatase-α (G6Pase-α) is a metabolic disorder characterized by impaired glucose homeostasis and a long-term complication of hepatocellular adenoma/carcinoma (HCA/HCC). Mitochondrial dysfunction has been implicated in GSD-Ia but the underlying mechanism and its contribution to HCA/HCC development remain unclear. We have shown that hepatic G6Pase-α deficiency leads to downregulation of sirtuin 1 (SIRT1) signaling that underlies defective hepatic autophagy in GSD-Ia...
May 8, 2018: Journal of Inherited Metabolic Disease
Gonzalo N Bidart, Jesús Rodríguez-Díaz, Gaspar Pérez-Martínez, María J Yebra
The lactose operon (lacTEGF) from Lactobacillus casei strain BL23 has been previously studied. The lacT gene codes for a transcriptional antiterminator, lacE and lacF for the lactose-specific phosphoenolpyruvate: phosphotransferase system (PTSLac ) EIICB and EIIA domains, respectively, and lacG for the phospho-β-galactosidase. In this work, we have shown that L. casei is able to metabolize N-acetyllactosamine (LacNAc), a disaccharide present at human milk and intestinal mucosa. The mutant strains BL153 (lacE) and BL155 (lacF) were defective in LacNAc utilization, indicating that the EIICB and EIIA of the PTSLac are involved in the uptake of LacNAc in addition to lactose...
May 8, 2018: Scientific Reports
Kira Harris, Cassie Boland, Lisa Meade, Dawn Battise
Type 1 diabetes mellitus (T1DM) is characterized by relative or absolute insulin deficiency. Despite treatment with insulin therapy, glycemic goals are not always met, and insulin therapy is sometimes limited by adverse effects, including hypoglycemia and weight gain. Several adjunctive therapies have been evaluated in combination with insulin in patients with T1DM to improve glycemic control while minimizing adverse effects. Pramlintide, an amylin analog, can improve glycemic control, primarily through lowering postprandial blood glucose levels...
2018: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy
Tomoyuki Nishizaki
BACKGROUND/AIMS: Phosphatidylethanolamine, a component of the plasma membrane, regulates diverse cellular processes. The present study investigated the role of 1,2-dioleoyl-sn-glycero-3-phosphoethanolamine (DOPE) in the trafficking of the glucose transporter GLUT4 and the glucose homeostasis. METHODS: Monitoring of GLUT4 trafficking, GLUT4 internalization assay, and glucose uptake assay were carried out using differentiated 3T3-L1-GLUT4myc adipocytes. Akt1/2 and PKC isozymes were knocked-down by transfecting each siRNA...
2018: Cellular Physiology and Biochemistry
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