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.

中文翻译：

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由于SLC30A10或SLC39A14中的突变而导致家族性锰引起的神经毒性

在过去的几年中，已经发现了两种罕见的家族性疾病，这些疾病导致锰（Mn）引起的神经毒性发作。锰流出转运蛋白SLC30A10或锰流入转运蛋白SLC39A14中的功能丧失突变，会增加血液和大脑中的锰水平，并引起严重的神经毒性。这些遗传疾病的发现改变了我们对锰稳态，排毒和神经毒性的认识。本文综述了有关这些转运蛋白突变改变Mn稳态以诱发人类疾病的机制的最新知识。