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Inherited Disorders of Manganese Metabolism

  • Charles E. Zogzas
  • Somshuvra MukhopadhyayEmail author
Chapter
Part of the Advances in Neurobiology book series (NEUROBIOL, volume 18)

Abstract

While the neurotoxic effects of manganese were recognized in 1837, the first genetic disorder of manganese metabolism was described only in 2012 when homozygous mutations in SLC30A10 were reported to cause manganese-induced neurotoxicity. Two other genetic disorders of manganese metabolism have now been described – mutations in SLC39A14 cause manganese toxicity, while mutations in SLC39A8 cause manganese and zinc deficiency. Study of rare genetic disorders often provides unique insights into disease pathobiology, and the discoveries of these three inherited disorders of manganese metabolism are already transforming our understanding of manganese homeostasis, detoxification, and neurotoxicity. Here, we review the mechanisms by which mutations in SLC30A10, SLC39A14, and SLC39A8 impact manganese homeostasis to cause human disease.

Keywords

Manganese SLC30A10 SLC39A14 SLC39A8 Homeostasis Transporter 

Notes

Acknowledgments

Supported by R00-ES020844 and R01-ES024812 from NIH/NIEHS (to S. M.).

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Copyright information

© Springer International Publishing AG 2017

Authors and Affiliations

  1. 1.Division of Pharmacology & ToxicologyCollege of Pharmacy; Institute for Cellular & Molecular Biology; and Institute for Neuroscience, The University of Texas at AustinAustinUSA

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