SLC41A1, SLC41A3 and CNNM2: Magnesium responsive genes with potential involvement in human ailments
Abstract
It is well known that magnesium deficiency or altered IMH can trigger many pathophysiological conditions, thus a correct functioning of Mg2+ transporters and channels is essential for normal cellular physiology. Mutations in many MRG induce hypomagnesemia which often represents one of the complications of many human ailments. Based on previous data which have characterized SLC41A1 as a plasma membrane Na+/Mg2+ exchanger (4, 5) and as being overexpressed in preeclamptic women (6), the present thesis aimed at a further characterization of SLC41A1 and Mg2+ efflux in some pathophysiological conditions. It further aimed at the molecular characterization of two others MRGs, CNNM2 and SLC41A3, in order to achieve a better understanding of Mg2+ homeostasis and to link the mechanisms of Mg2+ mobilization across the plasma membrane or between intracellular compartments with mitochondrial dysfunction and disease states (e.g.: Parkinson’s disease (PD), diabetes, etc). Proceeding from previous results of Kolisek et al (4, 5), describing SLC41A1 as the major Mg2+ efflux system of the cell, the first study examined the complex-forming ability of SLC41A1 in vivo and identified EBP and other members of the SLC superfamily as potential binding partners. Further experiments evaluated the transport activity of the PD-associated SLC41A1 variant pA350V and defined it as a “gain-of-function” mutation enhancing Mg2+ efflux compared with the wild-type protein. A next question was whether SLC41A1…
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