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Publication Detail

Title: Familial manganese-induced neurotoxicity due to mutations in SLC30A10 or SLC39A14.

Authors: Mukhopadhyay, Somshuvra

Published In Neurotoxicology, (2018 Jan)

Abstract: 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.

PubMed ID: 28789954 Exiting the NIEHS site

MeSH Terms: Animals; Cation Transport Proteins/genetics*; Cells, Cultured; Genetic Predisposition to Disease; HEK293 Cells; Humans; Hypothyroidism/genetics; Loss of Function Mutation; Manganese/metabolism*; Mice, Knockout; Neurotoxicity Syndromes/genetics*; Zinc Transporter 8/genetics*

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