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One Molecule for Mental Nourishment and More: Glucose Transporter Type 1-Biology and Deficiency Syndrome.
Vulturar, Romana; Chiș, Adina; Pintilie, Sebastian; Farcaș, Ilinca Maria; Botezatu, Alina; Login, Cristian Cezar; Sitar-Taut, Adela-Viviana; Orasan, Olga Hilda; Stan, Adina; Lazea, Cecilia; Al-Khzouz, Camelia; Mager, Monica; Vințan, Mihaela Adela; Manole, Simona; Damian, Laura.
  • Vulturar R; Department of Molecular Sciences, "Iuliu Hațieganu" University of Medicine and Pharmacy, 400347 Cluj-Napoca, Romania.
  • Chiș A; Cognitive Neuroscience Laboratory, Department of Psychology, Babes-Bolyai University, 400029 Cluj-Napoca, Romania.
  • Pintilie S; Department of Molecular Sciences, "Iuliu Hațieganu" University of Medicine and Pharmacy, 400347 Cluj-Napoca, Romania.
  • Farcaș IM; Cognitive Neuroscience Laboratory, Department of Psychology, Babes-Bolyai University, 400029 Cluj-Napoca, Romania.
  • Botezatu A; Faculty of Medicine, "Iuliu Hațieganu" University of Medicine and Pharmacy, 400347 Cluj-Napoca, Romania.
  • Login CC; Chemistry Department, Oxford University, Oxford OX1 3TA, UK.
  • Sitar-Taut AV; Faculty of Medicine, "Iuliu Hațieganu" University of Medicine and Pharmacy, 400347 Cluj-Napoca, Romania.
  • Orasan OH; Department of Physiology, "Iuliu Hațieganu" University of Medicine and Pharmacy, 400347 Cluj-Napoca, Romania.
  • Stan A; Internal Medicine Department, 4th Medical Clinic, "Iuliu Hațieganu" University of Medicine and Pharmacy, 400347 Cluj-Napoca, Romania.
  • Lazea C; Internal Medicine Department, 4th Medical Clinic, "Iuliu Hațieganu" University of Medicine and Pharmacy, 400347 Cluj-Napoca, Romania.
  • Al-Khzouz C; Department of Neuroscience, "Iuliu Hațieganu" University of Medicine and Pharmacy, 400347 Cluj-Napoca, Romania.
  • Mager M; Department Mother and Child, "Iuliu Hațieganu" University of Medicine and Pharmacy, 400347 Cluj-Napoca, Romania.
  • Vințan MA; Emergency Clinical Hospital for Children, 400394 Cluj-Napoca, Romania.
  • Manole S; Department Mother and Child, "Iuliu Hațieganu" University of Medicine and Pharmacy, 400347 Cluj-Napoca, Romania.
  • Damian L; Emergency Clinical Hospital for Children, 400394 Cluj-Napoca, Romania.
Biomedicines ; 10(6)2022 May 26.
Artigo em Inglês | MEDLINE | ID: covidwho-1869466
ABSTRACT
Glucose transporter type 1 (Glut1) is the main transporter involved in the cellular uptake of glucose into many tissues, and is highly expressed in the brain and in erythrocytes. Glut1 deficiency syndrome is caused mainly by mutations of the SLC2A1 gene, impairing passive glucose transport across the blood-brain barrier. All age groups, from infants to adults, may be affected, with age-specific symptoms. In its classic form, the syndrome presents as an early-onset drug-resistant metabolic epileptic encephalopathy with a complex movement disorder and developmental delay. In later-onset forms, complex motor disorder predominates, with dystonia, ataxia, chorea or spasticity, often triggered by fasting. Diagnosis is confirmed by hypoglycorrhachia (below 45 mg/dL) with normal blood glucose, 18F-fluorodeoxyglucose positron emission tomography, and genetic analysis showing pathogenic SLC2A1 variants. There are also ongoing positive studies on erythrocytes' Glut1 surface expression using flow cytometry. The standard treatment still consists of ketogenic therapies supplying ketones as alternative brain fuel. Anaplerotic substances may provide alternative energy sources. Understanding the complex interactions of Glut1 with other tissues, its signaling function for brain angiogenesis and gliosis, and the complex regulation of glucose transportation, including compensatory mechanisms in different tissues, will hopefully advance therapy. Ongoing research for future interventions is focusing on small molecules to restore Glut1, metabolic stimulation, and SLC2A1 transfer strategies. Newborn screening, early identification and treatment could minimize the neurodevelopmental disease consequences. Furthermore, understanding Glut1 relative deficiency or inhibition in inflammation, neurodegenerative disorders, and viral infections including COVID-19 and other settings could provide clues for future therapeutic approaches.
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Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: MEDLINE Tipo de estudo: Estudo diagnóstico / Estudo experimental / Ensaios controlados aleatorizados Tópicos: Variantes Idioma: Inglês Ano de publicação: 2022 Tipo de documento: Artigo País de afiliação: Biomedicines10061249

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Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: MEDLINE Tipo de estudo: Estudo diagnóstico / Estudo experimental / Ensaios controlados aleatorizados Tópicos: Variantes Idioma: Inglês Ano de publicação: 2022 Tipo de documento: Artigo País de afiliação: Biomedicines10061249