Department of Nutritional Sciences, The University of Arizona, Tucson, AZ 85721, USA.
Int J Mol Sci. 2020 May 7;21(9):3304. doi: 10.3390/ijms21093304.
As an essential nutrient, manganese is required for the regulation of numerous cellular processes, including cell growth, neuronal health, immune cell function, and antioxidant defense. However, excess manganese in the body is toxic and produces symptoms of neurological and behavioral defects, clinically known as manganism. Therefore, manganese balance needs to be tightly controlled. In the past eight years, mutations of genes encoding metal transporters (), (), and () have been identified to cause dysregulated manganese homeostasis in humans, highlighting the critical roles of these genes in manganese metabolism. This review focuses on the most recent advances in the understanding of physiological functions of these three identified manganese transporters and summarizes the molecular mechanisms underlying how the loss of functions in these genes leads to impaired manganese homeostasis and human diseases.
作为一种必需的营养物质，锰对于许多细胞过程的调节是必需的，包括细胞生长、神经元健康、免疫细胞功能和抗氧化防御。然而，体内过量的锰是有毒的，并产生神经和行为缺陷的症状，临床上称为锰中毒。因此，锰的平衡需要严格控制。在过去的八年中，编码金属转运体（）、（）和（）的基因突变已被确定可导致人类锰稳态失调，这突出了这些基因在锰代谢中的关键作用。这篇综述重点介绍了对这三种已鉴定的锰转运体的生理功能的最新理解进展，并总结了这些基因功能丧失如何导致锰稳态失调和人类疾病的分子机制。
