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glucose transporter 1 deficiency

Manami Akasaka, Atsushi Kamei, Nami Araya, Kotaro Oyama, Makoto Sasaki
No abstract text is available yet for this article.
October 15, 2018: Pediatrics International: Official Journal of the Japan Pediatric Society
Wenjie Li, Min Yao, Ruonan Wang, Yun Shi, Lianguo Hou, Ziyuan Hou, Kaoqi Lian, Nan Zhang, Yaqi Wang, Weiwei Li, Wei Wang, Lingling Jiang
BACKGROUND: Lipotoxicity contributes to diabetic myocardial disease. In this study, we investigated the lipid species contributing to lipotoxicity and the relationship with peroxisomal β-oxidation in the heart of diabetic mice. METHODS: Male C57BL/6 mice were randomly divided into a Diabetic group (intraperitoneal injection of STZ) and a Control group (saline). Cardiac function indexes [ejection fraction (EF%) and fractional shortening (FS%)] were evaluated by echocardiography...
October 9, 2018: Lipids in Health and Disease
Salman Azhar, Stefanie Bittner, Jie Hu, Wen-Jun Shen, Yuan Cortez, Xiao Hao, Han Lu, Jens O Lagerstedt, Fredric B Kraemer, Jan O Johansson
Previously, apoE-derived ABCA1 agonist peptides have been shown to possess anti-atherosclerotic and possibly antidiabetic properties. Here we assessed the in vitro and in vivo actions of a second generation of ABCA1 peptide agonists, CS6253 and T6991-2, on glucose homeostasis. The results show that these two peptides improve glucose tolerance in a prediabetic diet-induced obesity mouse model by enhancing insulin secretion. It was further demonstrated that T6991-2 also improved glucose tolerance in leptin-deficient (ob/ob) mice...
October 2, 2018: Molecular and Cellular Endocrinology
Gajanan A Panandikar, Sangeeta H Ravat, Rahil R Ansari, Karan M Desai
Glut-1 transporter deficiency syndrome (GLUT1-DS) is a rare disorder caused by the mutation in SLC2A1 gene, which results in impaired glucose transport into the brain. It has a broad spectrum of phenotypic presentation ranging from cognitive decline, microcephaly, and refractory seizures to complex movement disorder. Recognition of this disorder is necessary as it is refractory to antiepileptic drugs (AEDs) and responds significantly to ketogenic diet. We report a case of 7-year-old girl who presented with paroxysmal eye movements in infancy with early-onset absence epilepsy (EOAE), which worsened in early morning and on fasting and was found to be refractory to four AEDs...
July 2018: Journal of Pediatric Neurosciences
Rahul Agrawal, Adriana Vieira-de-Abreu, Griffin Durupt, Casey Taylor, Owen Chan, Simon J Fisher
It is proposed that the impaired counterregulatory response (CRR) to hypoglycemia in insulin deficient diabetes may be due to chronic brain insulin deficiency. To test this hypothesis, streptozotocin-diabetic Sprague-Dawley rats were infused with either insulin (3mU/day) or artificial cerebrospinal fluid (aCSF) bilaterally into the ventromedial hypothalamus (VMH) for 2 weeks and compared to nondiabetic rats. Rats underwent hyperinsulinemic (50 .min-1 ) hypoglycemic (~45 mg/dl) clamps. Diabetic rats demonstrated an impaired CRR to hypoglycemia noted by an high glucose infusion rate (GIR) and blunted epinephrine and glucagon responses...
September 18, 2018: American Journal of Physiology. Endocrinology and Metabolism
Seema Mihrshahi, Megan L Gow, Louise A Baur
Of the 34 member countries of the Organisation for Economic Co-operation and Development, obesity prevalence is highest in the United States, with Australia ranking fifth for girls and eighth for boys. Curbing the problem is achievable and can be realised through a combination of smart governance across many sectors, community initiatives, the support of individual efforts, and clinical leadership. At 5 years of age, one in five Australian children are already affected by overweight or obesity; obesity prevention strategies must therefore start before this age...
September 17, 2018: Medical Journal of Australia
Willy Marcos Valencia, Diana Botros, Maria Vera-Nunez, Stuti Dang
PURPOSE OF REVIEW: The current approach to diabetes in the elderly incorporates components from the comprehensive geriatric approach. The most updated guidelines from the American Diabetes Association reflect influence from the consensus made in 2012 with the American Geriatrics Society. Notably, the framework included the evaluation for geriatric syndromes (falls and urinary incontinence), functional and cognitive abilities. The goal for this review is to provide an updated summary of treatment strategies for community-dwelling older adults...
September 5, 2018: Current Diabetes Reports
Yafei Li, Dong Chang, Huijuan Yang, Jing Wang, Hongzhi Shi
Burley tobacco (Nicotiana Tabacum) is a chlorophyll-deficiency mutant. Nitrate is one precursor of tobacco-specific nitrosamines (TSNAs) and is largely accumulated in burley tobacco. To decrease nitrate accumulation in burley tobacco, glycerol, a polyhydric alcohol compound and physiological regulating material, was sprayed and its effects were investigated based on metabolomic technology and molecular biology. The results showed that glucose, glutamine and glutamic acid increased by 2.6, 5.1 and 196, folds, respectively, in tobacco leaves after glycerol application...
September 5, 2018: Scientific Reports
Jing Liu, Lili Tong, Shuangshuang Song, Yue Niu, Jun Li, Xiu Wu, Jie Zhang, Clement C Zai, Fang Luo, Jian Wu, Haiyin Li, Albert H C Wong, Ruopeng Sun, Fang Liu, Baomin Li
Pediatric refractory epilepsy is a broad phenotypic spectrum with great genetic heterogeneity. Next-generation sequencing (NGS) combined with Sanger sequencing could help to understand the genetic diversity and underlying disease mechanisms in pediatric epilepsy. Here, we report sequencing results from a cohort of 172 refractory epilepsy patients aged 0-14 years. The pathogenicity of identified variants was evaluated in accordance with the American College of Medical Genetics and Genomics (ACMG) criteria. We identified 43 pathogenic or likely pathogenic variants in 40 patients (23...
September 5, 2018: Molecular Brain
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...
August 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...
September 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...
September 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, causes severe malabsorptive diarrhea, though the mechanism is not fully understood. 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...
October 1, 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
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