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Junekey Chung - One of the best experts on this subject based on the ideXlab platform.
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expression patterns of Glucose Transporter 1 gene and thyroid specific genes in human papillary thyroid carcinoma
Nuclear Medicine and Molecular Imaging, 2014Co-Authors: Junekey Chung, Joo Hyun Kang, Do Joon Park, Jae Min Jeong, Sung Hwae ParkAbstract:Purpose The expression of Glucose Transporter-1 (Glut-1) gene and those of major thyroid-specific genes were examined in papillary carcinoma tissues, and the expressions of these genes were compared with cancer differentiation grades.
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Comparison of [18F]fluorodeoxyGlucose uptake with Glucose Transporter-1 expression and proliferation rate in human glioma and non-small-cell lung cancer.
Nuclear medicine communications, 2004Co-Authors: Junekey Chung, Jae Min Jeong, Yun Jong Lee, Dong Soo Lee, Myung Chul LeeAbstract:To clarify the biological significance of [18F]fluorodeoxyGlucose (18F-FDG) accumulation in patients with cancer, we assessed the relationships between 18F-FDG uptake and Glucose Transporter-1 (GLUT-1) expression and proliferation rate in human glioma and lung cancer. We obtained FDG PET images and
Darryl C. De Vivo - One of the best experts on this subject based on the ideXlab platform.
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Therapeutic strategies for Glucose Transporter 1 deficiency syndrome
Annals of clinical and translational neurology, 2019Co-Authors: Maoxue Tang, Darryl C. De Vivo, Sarah H. Park, Umrao R. MonaniAbstract:Proper development and function of the mammalian brain is critically dependent on a steady supply of its chief energy source, Glucose. Such supply is mediated by the Glucose Transporter 1 (Glut1) protein. Paucity of the protein stemming from mutations in the associated SLC2A1 gene deprives the brain of Glucose and triggers the infantile-onset neurodevelopmental disorder, Glut1 deficiency syndrome (Glut1 DS). Considering the monogenic nature of Glut1 DS, the disease is relatively straightforward to model and thus study. Accordingly, Glut1 DS serves as a convenient paradigm to investigate the more general cellular and molecular consequences of brain energy failure. Here, we review how Glut1 DS models have informed the biology of a prototypical brain energy failure syndrome, how these models are facilitating the development of promising new treatments for the human disease, and how important insights might emerge from the study of Glut1 DS to illuminate the myriad conditions involving the Glut1 protein.
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diagnosing Glucose Transporter 1 deficiency at initial presentation facilitates early treatment
The Journal of Pediatrics, 2016Co-Authors: Cigdem I. Akman, Aliza S Alter, Kristin Engelstad, Darryl C. De VivoAbstract:Objective To profile the initial clinical events of Glucose Transporter 1 deficiency syndrome (Glut1 DS) in order to facilitate the earliest possible diagnosis. Study design We retrospectively reviewed 133 patients with Glut1 DS from a single institution. Family interviews and medical record reviews identified the first clinical event(s) reported by the caregivers. Results Average age of the first event was 8.15 ± 11.9 months (range: 0.01-81). Ninety-one patients experienced the first symptom before age 6 months (68%). Thirty-three additional patients (25%) presented before age 2 years. Only 9 patients (7%), reported the first event after age 2 years. Seizures were the most common first event (n = 81, 61%), followed by eye movement abnormalities (n = 51, 38%) and changes in muscle strength and tone (n = 30, 22%). Eye movement abnormalities, lower cerebrospinal fluid Glucose values, and lower Columbia Neurological Scores correlated with earlier onset of the first event (r: −0.17, 0.22, and 0.25 respectively, P Conclusions Glut1 DS is a treatable cause of infantile onset encephalopathy. Health care providers should recognize the wide spectrum of paroxysmal events that herald the clinical onset of Glut1 DS in early infancy to facilitate prompt diagnosis, immediate treatment, and improved long-term outcome.
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Epilepsy and Glucose Transporter 1 deficiency syndrome
Journal of Pediatric Epilepsy, 2015Co-Authors: Cigdem I. Akman, Darryl C. De VivoAbstract:Glucose Transporter 1 deficiency syndrome (GLUT-1 DS) is a unique genetic syndrome representing a severe metabolic encephalopathy, as a result, of insufficient Glucose transport into the brain. Infantile onset seizures, acquired microcephaly, spasticity, ataxia, dystonia and mental retardation are the cardinal features of the syndrome. Over the years, the clinical spectrum of GLUT-1 DS has been expanded beyond the original phenotype. Clinical features of seizures present with a wide spectrum, however generalized seizures are reported as the most common seizure types in the patients received diagnosis of GLUT-1 DS. In recent years, there are number of epilepsy syndromes described in association with GLUT-1 DS has been shown to be the underlying cause for 10% of early onset absence epilepsy, 5% of Myoclonic astatic epilepsy (MAE) and 1% of idiopathic generalized epilepsies. Seizures are often remained refractory despite the treatment with a number of antiepileptic medications. Valproate and benzodiazepines are relatively contraindicated for the treatment of seizures in this syndrome. Ethanol and caffeine also inhibits GLUT-1 transport activity and may exacerbate seizures. Ketogenic diet remains the most effective treatment in order to meet the energy demand of developing brain. GLUT-1 DS should be suspected in the individuals with family history of idiopathic generalized epilepsy and/or paroxysmal dyskinesia. Moreover, the families with absence epilepsy with a wide range of age of onset or seizure types should also be screened for GLUT-1 DS.
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First report of Glucose Transporter 1 deficiency syndrome in Korea with a novel splice site mutation.
Gene, 2012Co-Authors: Sat Byul Woo, Darryl C. De Vivo, Hong Yang, Kon-hee Lee, Hoon Chul Kang, Sung Koo KimAbstract:Glucose Transporter type 1 deficiency syndrome (Glut-1DS) is caused by autosomal dominant haplodeficiency or autosomal recessive with homozygous mutation of the Glucose Transporter 1 (SLC2A1) gene and is characterized by severe seizures, developmental delay, ataxia and acquired microcephaly. We describe the first known Korean patient with Glucose Transporter 1 deficiency syndrome, who had a novel mutation in the splice site. The patient began having intractable seizures at 4 days of age that initially presented as eye blinking and apnea, evolving into generalized tonic seizures. A lumbar puncture revealed low Glucose concentration in the cerebrospinal fluid (CSF) in the setting of normoglycemia (blood Glucose, 106 mg/dl; CSF Glucose 21 mg/dl, and CSF to blood Glucose ratio 0.20). The results of a 3-O-methylGlucose uptake study in erythrocytes (RBC) revealed that Glucose uptake reduced to 48% of his parents in the patient. The patient responded to a ketogenic diet that was initiated at 4 months of age and currently is on the modified Atkins diet (MAD) without seizures. He does not require antiepileptic medication. We diagnosed the first Glut-1 patient in Korea with a novel splice site mutation on the basis of clinical features, deficient Glucose uptake and a mutation in the SLC2A1 gene.
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Valproic acid enhances Glucose transport in the cultured brain astrocytes of Glucose Transporter 1 heterozygous mice.
Journal of child neurology, 2012Co-Authors: Sung Koo Kim, Hong Yang, Juan M. Pascual, Darryl C. De VivoAbstract:Glucose Transporter 1 facilitates Glucose transport across the blood–brain barrier. By increasing histone acetylation at the SLC2A1 promotor, valproic acid could increase SLC2A1 gene expression. Th...
Diana Ballhausen - One of the best experts on this subject based on the ideXlab platform.
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Glucose Transporter 1 deficiency syndrome the expanding clinical and genetic spectrum of a treatable disorder
Brain, 2010Co-Authors: Wilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, Maike Leferink, Tom Hofste, Baziel G M Van Engelen, Ron A Wevers, Todd Arthur, Nadia Bahibuisson, Diana BallhausenAbstract:Glucose Transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired Glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex ligation-dependent probe amplification. Mutations in the SLC2A1 gene were detected in 54 patients (41%) and subsequently in three clinically affected family members. In these 57 patients we identified 49 different mutations, including six multiple exon deletions, six known mutations and 37 novel mutations (13 missense, five nonsense, 13 frame shift, four splice site and two translation initiation mutations). Clinical data were retrospectively collected from referring physicians by means of a questionnaire. Three different phenotypes were recognized: (i) the classical phenotype (84%), subdivided into early-onset (<2 years) (65%) and late-onset (18%); (ii) a non-classical phenotype, with mental retardation and movement disorder, without epilepsy (15%); and (iii) one adult case of Glucose Transporter-1 deficiency syndrome with minimal symptoms. Recognizing Glucose Transporter-1 deficiency syndrome is important, since a ketogenic diet was effective in most of the patients with epilepsy (86%) and also reduced movement disorders in 48% of the patients with a classical phenotype and 71% of the patients with a non-classical phenotype. The average delay in diagnosing classical Glucose Transporter-1 deficiency syndrome was 6.6 years (range 1 month-16 years). Cerebrospinal fluid Glucose was below 2.5 mmol/l (range 0.9-2.4 mmol/l) in all patients and cerebrospinal fluid : blood Glucose ratio was below 0.50 in all but one patient (range 0.19-0.52). Cerebrospinal fluid lactate was low to normal in all patients. Our relatively large series of 57 patients with Glucose Transporter-1 deficiency syndrome allowed us to identify correlations between genotype, phenotype and biochemical data. Type of mutation was related to the severity of mental retardation and the presence of complex movement disorders. Cerebrospinal fluid : blood Glucose ratio was related to type of mutation and phenotype. In conclusion, a substantial number of the patients with Glucose Transporter-1 deficiency syndrome do not have epilepsy. Our study demonstrates that a lumbar puncture provides the diagnostic clue to Glucose Transporter-1 deficiency syndrome and can thereby dramatically reduce diagnostic delay to allow early start of the ketogenic diet.
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Glucose Transporter-1 deficiency syndrome: The expanding clinical and genetic spectrum of a treatable disorder
Brain, 2010Co-Authors: Wilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, Maike Leferink, Tom Hofste, Baziel G M Van Engelen, Ron A Wevers, Todd Arthur, Nadia Bahi-buisson, Diana BallhausenAbstract:Glucose Transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired Glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex ligation-dependent probe amplification. Mutations in the SLC2A1 gene were detected in 54 patients (41%) and subsequently in three clinically affected family members. In these 57 patients we identified 49 different mutations, including six multiple exon deletions, six known mutations and 37 novel mutations (13 missense, five nonsense, 13 frame shift, four splice site and two translation initiation mutations). Clinical data were retrospectively collected from referring physicians by means of a questionnaire. Three different phenotypes were recognized: (i) the classical phenotype (84%), subdivided into early-onset (
Gloria Yepiz-plascencia - One of the best experts on this subject based on the ideXlab platform.
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Functionality of the white shrimp Glucose Transporter 1: Expression in Xenopus oocytes and gene silencing during hypoxia
Journal of Experimental Marine Biology and Ecology, 2016Co-Authors: José A. Martínez-quintana, Alma B. Peregrino-uriarte, Silvia Gómez-jiménez, Elisa M. Valenzuela-soto, Miguel Ángel Martínez-téllez, Shingo Kikuta, Gloria Yepiz-plascenciaAbstract:Abstract The functionality of the Glucose Transporter 1 (LvGLUT1) from the white shrimp Litopenaeus vannamei was evaluated by heterologous expression in Xenopus laevis oocytes and by gene silencing during hypoxia in the gills and hepatopancreas of the shrimp. The LvGLUT1 mRNA was expressed and translated in Xenopus oocytes. The GLUT-1 protein localized in the plasma membrane and transported Glucose into the oocytes at a rate of 2.25 ± 0.5 nmol/oocyte/2 h. The effects of hypoxia and glut1 silencing on Glucose and lactate concentrations were measured after injection of Lvglut1 dsRNA followed by 3, 24 and 48 h of hypoxia. Gene silencing with Lvglut1 dsRNA was effectively triggered in both tissues. Glucose and lactate concentrations increased (p
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The Glucose Transporter 1 -GLUT1- from the white shrimp Litopenaeus vannamei is up-regulated during hypoxia
Molecular biology reports, 2014Co-Authors: José A. Martínez-quintana, Alma B. Peregrino-uriarte, Teresa Gollas-galván, Silvia Gómez-jiménez, Gloria Yepiz-plascenciaAbstract:During hypoxia the shrimp Litopenaeus vannamei accelerates anaerobic glycolysis to obtain energy; therefore, a correct supply of Glucose to the cells is needed. Facilitated Glucose transport across the cells is mediated by a group of membrane embedded integral proteins called GLUT; being GLUT1 the most ubiquitous form. In this work, we report the first cDNA nucleotide and deduced amino acid sequences of a Glucose Transporter 1 from L. vannamei. A 1619 bp sequence was obtained by RT-PCR and RACE approaches. The 5´ UTR is 161 bp and the poly A tail is exactly after the stop codon in the mRNA. The ORF is 1485 bp and codes for 485 amino acids. The deduced protein sequence has high identity to GLUT1 proteins from several species and contains all the main features of Glucose Transporter proteins, including twelve transmembrane domains, the conserved motives and amino acids involved in transport activity, ligands binding and membrane anchor. Therefore, we decided to name this sequence, Glucose Transporter 1 of L. vannamei (LvGLUT1). A partial gene sequence of 8.87 Kbp was also obtained; it contains the complete coding sequence divided in 10 exons. LvGlut1 expression was detected in hemocytes, hepatopancreas, intestine gills, muscle and pleopods. The higher relative expression was found in gills and the lower in hemocytes. This indicates that LvGlut1 is ubiquitously expressed but its levels are tissue-specific and upon short-term hypoxia, the GLUT1 transcripts increase 3.7-fold in hepatopancreas and gills. To our knowledge, this is the first evidence of expression of GLUT1 in crustaceans.
Morihito Okada - One of the best experts on this subject based on the ideXlab platform.
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Association between [18F]-fluoro-2-deoxyGlucose uptake and expressions of hypoxia-induced factor 1α and Glucose Transporter 1 in non-small cell lung cancer.
Japanese journal of clinical oncology, 2015Co-Authors: Takaoki Furukawa, Yoshihiro Miyata, Kei Kushitani, Takahiro Mimae, Yasuhiro Tsutani, Yukio Takeshima, Morihito OkadaAbstract:OBJECTIVE High maximum standardized uptake values on [(18)F]-fluoro-2-deoxyGlucose positron emission tomography are associated with inferior survival in non-small cell lung cancer. Here, we investigated the biological mechanisms underlying [(18)F]-fluoro-2-deoxyGlucose uptake in non-small cell lung cancer. METHODS This study included 133 patients with non-small cell lung cancer (109 with adenocarcinoma and 24 with squamous cell carcinoma). The patients underwent tumour resection, at the latest, 4 weeks after [(18)F]-fluoro-2-deoxyGlucose positron emission tomography. The maximum standardized uptake values for primary lesions were calculated based on [(18)F]-fluoro-2-deoxyGlucose uptake. The expression of hypoxia-inducible factor 1α and Glucose Transporter 1 was evaluated on immunostained tumour sections using six-point grading scales. RESULTS Maximum standardized uptake values and the expression of hypoxia-inducible factor 1α and Glucose Transporter 1 were significantly higher in squamous cell carcinoma than in adenocarcinoma (P < 0.001, P = 0.034 and P < 0.001, respectively). In adenocarcinoma, but not squamous cell carcinoma, maximum standardized uptake values, hypoxia-inducible factor 1α and Glucose Transporter 1 correlated with various clinicopathological factors relating to malignancy, and maximum standardized uptake values and Glucose Transporter 1 were associated with disease-free survival (P < 0.001 and P = 0.029) and overall survival (P < 0.001 and P = 0.033, respectively). Patients with high expression of hypoxia-inducible factor 1α tended to exhibit shorter disease-free survival and overall survival than those with low expression, but the differences were not significant (P = 0.32 and P = 0.15, respectively). And then in adenocarcinoma, hypoxia-inducible factor 1α and Glucose Transporter 1, Glucose Transporter 1 and maximum standardized uptake values, and hypoxia-inducible factor 1α and maximum standardized uptake values were significantly correlated (P < 0.001 for all), suggesting that hypoxia-inducible factor 1α-induced Glucose Transporter 1 might influence maximum standardized uptake values on [(18)F]-fluoro-2-deoxyGlucose positron emission tomography. CONCLUSIONS In lung adenocarcinoma, but not squamous cell carcinoma, hypoxia-inducible factor 1α and Glucose Transporter 1 expressions indicate tumour aggressiveness pathologically and might explain high [(18)F]-fluoro-2-deoxyGlucose uptake on positron emission tomography and correlate with poor prognosis.