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Cellular effects and clinical implications of SLC2A3 copy number variation
Please always quote using this URN: urn:nbn:de:bvb:20-opus-218009
- 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.…
Author: | 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 |
Document Type: | Journal article |
Faculties: | Medizinische Fakultät / Klinik und Poliklinik für Psychiatrie, Psychosomatik und Psychotherapie |
Medizinische Fakultät / Lehrstuhl für Molekulare Psychiatrie | |
Language: | English |
Parent Title (English): | Journal of Cellular Physiology |
Year of Completion: | 2020 |
Volume: | 235 |
Issue: | 12 |
First Page: | 9021 |
Last Page: | 9036 |
Source: | Journal of Cellular Physiology 2020, 235(12):9021–9036. DOI: 10.1002/jcp.29753 |
DOI: | https://doi.org/10.1002/jcp.29753 |
Dewey Decimal Classification: | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
Tag: | GLUT3; SLC2A3; copy number variation; energy metabolism; glucose transporter; neurodegeneration; neurodevelopment |
Release Date: | 2021/08/19 |
EU-Project number / Contract (GA) number: | 602805 |
EU-Project number / Contract (GA) number: | 643051 |
OpenAIRE: | OpenAIRE |
Licence (German): | CC BY: Creative-Commons-Lizenz: Namensnennung 4.0 International |