Cellular effects and clinical implications of SLC2A3 copy number variation
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- SLC2A3 encodes the predominantly neuronal glucose transporter 3 (GLUT3), which facilitates diffusion of glucose across plasma membranes. The human brain depends on a steady glucose supply for ATP generation, which consequently fuels critical biochemical processes, such as axonal transport and neurotransmitter release. Besides its role in the central nervous system, GLUT3 is also expressed in nonneural organs, such as the heart and white blood cells, where it is equally involved in energy metabolism. In cancer cells, GLUT3 overexpressionSLC2A3 encodes the predominantly neuronal glucose transporter 3 (GLUT3), which facilitates diffusion of glucose across plasma membranes. The human brain depends on a steady glucose supply for ATP generation, which consequently fuels critical biochemical processes, such as axonal transport and neurotransmitter release. Besides its role in the central nervous system, GLUT3 is also expressed in nonneural organs, such as the heart and white blood cells, where it is equally involved in energy metabolism. In cancer cells, GLUT3 overexpression contributes to the Warburg effect by answering the cell's increased glycolytic demands. The SLC2A3 gene locus at chromosome 12p13.31 is unstable and prone to non‐allelic homologous recombination events, generating multiple copy number variants (CNVs) of SLC2A3 which account for alterations in SLC2A3 expression. Recent associations of SLC2A3 CNVs with different clinical phenotypes warrant investigation of the potential influence of these structural variants on pathomechanisms of neuropsychiatric, cardiovascular, and immune diseases. In this review, we accumulate and discuss the evidence how SLC2A3 gene dosage may exert diverse protective or detrimental effects depending on the pathological condition. Cellular states which lead to increased energetic demand, such as organ development, proliferation, and cellular degeneration, appear particularly susceptible to alterations in SLC2A3 copy number. We conclude that better understanding of the impact of SLC2A3 variation on disease etiology may potentially provide novel therapeutic approaches specifically targeting this GLUT.…
Autor(en): | Georg C. ZieglerORCiD, Peter Almos, Rhiannon V. McNeill, Charline Jansch, Klaus‐Peter Lesch |
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URN: | urn:nbn:de:bvb:20-opus-218009 |
Dokumentart: | Artikel / Aufsatz in einer Zeitschrift |
Institute der Universität: | Medizinische Fakultät / Klinik und Poliklinik für Psychiatrie, Psychosomatik und Psychotherapie |
Medizinische Fakultät / Lehrstuhl für Molekulare Psychiatrie | |
Sprache der Veröffentlichung: | Englisch |
Titel des übergeordneten Werkes / der Zeitschrift (Englisch): | Journal of Cellular Physiology |
Erscheinungsjahr: | 2020 |
Band / Jahrgang: | 235 |
Heft / Ausgabe: | 12 |
Erste Seite: | 9021 |
Letzte Seite: | 9036 |
Originalveröffentlichung / Quelle: | Journal of Cellular Physiology 2020, 235(12):9021–9036. DOI: 10.1002/jcp.29753 |
DOI: | https://doi.org/10.1002/jcp.29753 |
Allgemeine fachliche Zuordnung (DDC-Klassifikation): | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
Freie Schlagwort(e): | GLUT3; SLC2A3; copy number variation; energy metabolism; glucose transporter; neurodegeneration; neurodevelopment |
Datum der Freischaltung: | 19.08.2021 |
EU-Projektnummer / Contract (GA) number: | 602805 |
EU-Projektnummer / Contract (GA) number: | 643051 |
OpenAIRE: | OpenAIRE |
Lizenz (Deutsch): | CC BY: Creative-Commons-Lizenz: Namensnennung 4.0 International |