Genetic Modulation of the GLUT1 Transporter Expression-Potential Relevance in Complex Diseases.

Autor:	Kulin A; Doctoral School of Molecular Medicine, Semmelweis University, 1085 Budapest, Hungary.; Institute of Enzymology, Research Centre for Natural Sciences, 1117 Budapest, Hungary., Kucsma N; Institute of Enzymology, Research Centre for Natural Sciences, 1117 Budapest, Hungary., Bohár B; Doctoral School of Biology, Eötvös Loránd University, 1117 Budapest, Hungary., Literáti-Nagy B; Drug Research Center, 8230 Balatonfüred, Hungary., Korányi L; Drug Research Center, 8230 Balatonfüred, Hungary., Cserepes J; CellPharma Kft, 1119 Budapest, Hungary., Somogyi A; 2nd Department of Internal Medicine, Semmelweis University, 1088 Budapest, Hungary., Sarkadi B; Doctoral School of Molecular Medicine, Semmelweis University, 1085 Budapest, Hungary.; Institute of Enzymology, Research Centre for Natural Sciences, 1117 Budapest, Hungary., Szabó E; Institute of Enzymology, Research Centre for Natural Sciences, 1117 Budapest, Hungary., Várady G; Doctoral School of Molecular Medicine, Semmelweis University, 1085 Budapest, Hungary.; Institute of Enzymology, Research Centre for Natural Sciences, 1117 Budapest, Hungary.
Jazyk:	angličtina
Zdroj:	Biology [Biology (Basel)] 2022 Nov 16; Vol. 11 (11). Date of Electronic Publication: 2022 Nov 16.
DOI:	10.3390/biology11111669
Abstrakt:	The human GLUT1 (SLC2A1) membrane protein is the key glucose transporter in numerous cell types, including red cells, kidney, and blood-brain barrier cells. The expression level of this protein has a role in several diseases, including cancer and Alzheimer's disease. In this work, to investigate a potential genetic modulation of the GLUT1 expression level, the protein level was measured in red cell membranes by flow cytometry, and the genetic background was analyzed by qPCR and luciferase assays. We found significant associations between red cell GLUT1 levels and four single nucleotide polymorphisms (SNP) in the coding SLC2A1 gene, that in individuals with the minor alleles of rs841848, rs1385129, and rs11537641 had increased, while those having the variant rs841847 had decreased erythrocyte GLUT1 levels. In the luciferase reporter studies performed in HEK-293T and HepG2 cells, a similar SNP-dependent modulation was observed, and lower glucose, serum, and hypoxic condition had variable, cell- and SNP-specific effects on luciferase expression. These results should contribute to a more detailed understanding of the genetic background of membrane GLUT1 expression and its potential role in associated diseases. Competing Interests: The authors declare no competing interests.
Databáze:	MEDLINE
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