Familial manganese-induced neurotoxicity due to mutations inSLC30A10orSLC39A14


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Abstract

HighlightsMechanisms of Mn toxicity due to SLC30A10 or SLC39A14 mutations are described.Data from clinical, cell culture, and rodent studies are succinctly summarized.A model for disease onset is provided.Over the last few years, two rare, familial diseases that lead to the onset of manganese (Mn)-induced neurotoxicity have been discovered. Loss-of-function mutations in SLC30A10, a Mn efflux transporter, or SLC39A14, a Mn influx transporter, increase Mn levels in blood and brain, and induce severe neurotoxicity. The discoveries of these genetic diseases have transformed our understanding of Mn homeostasis, detoxification, and neurotoxicity. Current knowledge about the mechanisms by which mutations in these transporters alter Mn homeostasis to induce human disease is reviewed here.

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