PhD Scientific Days 2021

MO_I_P: Molecular Sciences I. Posters

Association between the expression level of GLUT1 transporter and its polymorphisms – potential relevance in metabolic diseases

Anna Kulin(1,2), Dr. Edit Szabó(1), Dr. Balázs Sarkadi(1), Dr. György Várady(1)

1)Research Centre for Natural Sciences, Institute of Enzymology, Budapest
2)Semmelweis University, Doctoral School of Molecular Medicine, Budapest

Text of the abstract

Introduction: Glucose transporter1 (GLUT1, SLC2A1) facilitates basal glucose transport in many cell types, including erythrocytes, cells of the blood-brain barrier, the kidney and the placenta. The role of this membrane protein in diseases including cancer and disorders of the nervous system (e.g. Alzheimer’s disease) has already been described. In addition, there are several case-control studies about the polymorphisms in the coding gene that may contribute to the development of other diseases (e.g. type 2 diabetes). However, these studies do not provide information about the effects of the potential changes in the protein expression level.
Aims: In the present work my aim was to find genetic variants that may influence the amount of the GLUT1 protein and to confirm the modulation effect of these variants. These findings can be used in searching for the background of various metabolic diseases.
Methods: The quantitative measurement of the GLUT1 membrane protein in the erythrocyte membrane is performed using a flow cytometry-based method that has been developed by our research group. To determine the potential genetic background of the differences in the expression levels, sequencing and genotyping methods were used. To verify the results, I used the dual luciferase assay system in HEK cells.
Results: We found significant associations between the expression level of the GLUT1 membrane protein in red cells and the presence of the four examined SNPs (rs1385129, rs841847, rs841848, rs11537641). In the case of the variants rs1385129 and rs841847 the modulation effect was verified by the luciferase expression system.
Conclusion: The expression levels of the GLUT1 membrane protein were different among the genotypes of the examined SNPs. In the background of this correlation we assume regulatory mechanisms, such as transcription factor binding alteration in the presence of the SNPs. Our plan is to further explore these regulatory mechanisms.
Funding: NKFIH OTKA (K128011), VEKOP-2.1.1-15-2016-00117

University and Doctoral School

Semmelweis University, Doctoral School of Molecular Medicine