Inherited Disorders of Manganese Metabolism.
Inherited Disorders of Manganese Metabolism.
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DOI：
10.1007/978-3-319-60189-2_3
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发表时间：
2017-01-01
影响因子：
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通讯作者：
Mukhopadhyay, Somshuvra
中科院分区：
文献类型：
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作者：
Zogzas, Charles E;Mukhopadhyay, Somshuvra
虽然锰的神经毒性作用在1837年被认识到，但锰代谢的第一个遗传性疾病仅在2012年被描述，当时据报道SLC 30 A10的纯合突变导致锰诱导的神经毒性。另外两种锰代谢的遗传性疾病现在已经被描述-SLC 39 A14的突变导致锰毒性，而SLC 39 A8的突变导致锰和锌缺乏。罕见遗传疾病的研究往往提供独特的见解疾病的病理生物学，这三个遗传性锰代谢紊乱的发现已经改变了我们对锰稳态，解毒和神经毒性的理解。在这里，我们回顾了SLC 30 A10，SLC 39 A14和SLC 39 A8突变影响锰稳态导致人类疾病的机制。
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.