Cibulka M1, Brodňanová M2, Grófik M3, Grendár M1, Štanclová A1, Lasabová Z1, Osina O4, Kurča E3, Kolísek M1
1 Biomedical Center, Jessenius Faculty of Medicine, Comenius University in Bratislava, Slovakia
2 Institute of Medical Biochemistry, Jessenius Faculty of Medicine, Comenius University in Bratislava, Slovakia
3 Clinic of Neurology, University Hospital in Martin, Slovakia
4 Clinic of Occupational medicine, University Hospital in Martin, Slovakia
Introduction: Membrane protein SLC41A1 plays a key role in magnesium homeostasis regulation. Altered function of this transport system leads to disturbances in cellular physiology. In vitro as well as in vivo studies demonstrated putative association between deregulated magnesium homeostasis and cellular damage, associated with Parkinsons disease (PD). Potential involvement of SLC41A1 in PD pathogenesis needs to be evaluated on molecular level.
Materials and methods: Patients diagnosed with PD as well as relatively healthy probands, meeting inclusion criteria, were enrolled for the study. DNA samples from probands were used for purposes of analyses. Sequencing analysis of the SLC41A1 promoter region was performed by means of Sanger sequencing method.
Results: Variants rs1230165298, rs144056491, rs56152218 and rs61822602 were identified in promoter region of SLC41A1 in PD patients. Presence of variant rs1230165298 leads to alteration of binding motive for transcription factor (TF) SP1; presence of variant rs56152218 leads to formation of binding motive for TF YY1 and alteration of binding motive for TF GATA2.
Conclusion: Presence of variants rs1230165298 and rs56152218 leads to change in profile of TFs, bound to SLC41A1 promoter region. This might influence the expression of the gene.
Key words: Magnesium homeostasis, Parkinson´s disease, transport, SLC41A1, sequencing