title: The role of MAGT1 in genetic  syndromes.
abstract: Disturbances in magnesium homeostasis, often linked to altered expression and/or function of magnesium channels, have been implicated in a plethora of diseases. This review focuses on magnesium transporter 1 (MAGT1), as recently described changes in this gene have further extended our understanding of the role of magnesium in human health and disease. The identification of genetic changes and their functional consequences in patients with immunodeficiency revealed that magnesium and MAGT1 are key molecular players for T cell-mediated immune responses. This led to the description of XMEN (X-linked immunodeficiency with magnesium defect, Epstein Barr Virus infection, and neoplasia) syndrome, for which Mg2+ supplementation has been shown to be beneficial. Similarly, the identification of a copy-number variation (CNV) leading to dysfunctional MAGT1 in a family with atypical ATRX syndrome and skin abnormalities, suggested that the MAGT1 defect could be responsible for the cutaneous problems. On the other hand, recent genetic investigations question the previously proposed role for MAGT1 in intellectual disability. Understanding the molecular basis of the involvement of magnesium and its channels in human pathogenesis will improve opportunities for Mg2+ therapies in the clinic.
authors.forename: Valentina
authors.initials: V
authors.lastname: Trapani
authors.forename: Naomi
authors.initials: N
authors.lastname: Shomer
authors.forename: Evica
authors.initials: E
authors.lastname: Rajcan-Separovic
mesh_terms: D000818:Animals; D027682:Cation Transport Proteins / Q000502:physiology*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D008274:Magnesium / Q000378:metabolism; D053632:X-Linked Combined Immunodeficiency Diseases / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism
chemical_list: D027682:Cation Transport Proteins; C509698:MagT1 protein, human; D008274:Magnesium