Title: Inherited Disorders of Manganese Metabolism.

Authors: Zogzas, Charles E; Mukhopadhyay, Somshuvra

Published In Adv Neurobiol, (2017)

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.

PubMed ID: 28889262

MeSH Terms: Cation Transport Proteins/genetics; Deficiency Diseases/genetics; Deficiency Diseases/metabolism*; Deficiency Diseases/psychology; Humans; Manganese Poisoning/genetics; Manganese Poisoning/metabolism*; Manganese Poisoning/psychology; Manganese/deficiency; Manganese/metabolism*; Metal Metabolism, Inborn Errors/genetics; Metal Metabolism, Inborn Errors/metabolism*; Metal Metabolism, Inborn Errors/psychology; Zinc Transporter 8/genetics; Zinc/deficiency