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Familial manganese-induced neurotoxicity due to mutations in SLC30A10 or SLC39A14
1Division of Pharmacology & Toxicology, College of Pharmacy, Institute for Cellular & Molecular Biology, Institute for Neuroscience, The University of Texas at Austin, 3.510E BME, 107 W. Dean Keeton, Austin, TX 78712, USA.
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.
Insights
Two rare genetic diseases linked to manganese transporters SLC30A10 and SLC39A14 have been identified. Mutations in these transporters disrupt manganese homeostasis, leading to severe neurotoxicity.
Area of Science:
- Neuroscience
- Genetics
- Toxicology
Background:
- Familial neurodegenerative diseases linked to manganese toxicity are rare.
- Recent discoveries have identified specific genetic mutations causing these conditions.
Purpose of the Study:
- To review current knowledge on manganese (Mn) homeostasis and toxicity.
- To understand the mechanisms of Mn-induced neurotoxicity in familial diseases.
Main Methods:
- Review of scientific literature on SLC30A10 and SLC39A14 gene mutations.
- Analysis of Mn transport, homeostasis, and neurotoxic effects.
Main Results:
- Loss-of-function mutations in SLC30A10 (Mn efflux) or SLC39A14 (Mn influx) increase Mn levels.
- Elevated Mn in blood and brain leads to severe neurotoxicity.
Conclusions:
- Discoveries of these genetic diseases have advanced understanding of Mn homeostasis and detoxification.
- Mutations in Mn transporters are key to Mn-induced neurotoxicity in humans.
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