Manganese homeostasis: from rare single-gene disorders to complex phenotypes and diseases

被引：15

作者：

Katz, Nathan ^{[1
]}

Rader, Daniel J. ^{[1
]}

机构：

[1] Univ Penn, Smilow Ctr Translat Res, Philadelphia, PA 19104 USA

来源：

JOURNAL OF CLINICAL INVESTIGATION | 2019年 / 129卷 / 12期

关键词：

SLC39A8; DEFICIENCY; TRANSPORTER; ASSOCIATION; HYPERMANGANESEMIA; POLYCYTHEMIA; MUTATIONS; SLC30A10; DYSTONIA;

D O I：

10.1172/JCI133120

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Manganese (Mn) participates in a variety of distinct physiological processes, including acting as a cofactor for several enzymes and metalloenzymes, in addition to playing a role in immune function, endocrine function, hematopoiesis, and oxidative stress regulation. Mn homeostasis is tightly regulated via intestinal absorption and hepatobiliary and intestinal excretion. In this issue of the JCI, Mercadante and colleagues explored the role of the metal transporter Slc30a10 in vivo using a mouse model system. The authors used whole-body and tissue-specific gene knockouts to show that Slc30a10 is paramount for Mn excretion in the liver and small intestines. These findings provide further insights into mechanisms for Mn homeostasis as well as potential targets for addressing Mn-associated disorders or environmental exposures.

引用

页码：5082 / 5085

页数：4

共 21 条

[1]

Aschner Judy L., 2005, Molecular Aspects of Medicine, V26, P353, DOI 10.1016/j.mam.2005.07.003

[2] Metal Transporter Zip14 (Slc39a14) Deletion in Mice Increases Manganese Deposition and Produces Neurotoxic Signatures and Diminished Motor Activity [J].

Aydemir, Tolunay Beker ;

Kim, Min-Hyun ;

Kim, Jinhee ;

Colon-Perez, Luis M. ;

Banan, Guita ;

Mareci, Thomas H. ;

Febo, Marcelo ;

Cousins, Robert J. .

JOURNAL OF NEUROSCIENCE, 2017, 37 (25) :5996-6006

[3] The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals [J].

Ehret, Georg B. ;

Ferreira, Teresa ;

Chasman, Daniel I. ;

Jackson, Anne U. ;

Schmidt, Ellen M. ;

Johnson, Toby ;

Thorleifsson, Gudmar ;

Luan, Jian'an ;

Donnelly, Louise A. ;

Kanoni, Stavroula ;

Petersen, Ann -Kristin ;

Pihurl, Vasyl ;

Strawbridge, Rona J. ;

Shungin, Dmitry ;

Hughes, Maria F. ;

Meirelles, Osorio ;

Kaakinen, Marika ;

Bouatia-Naji, Nabila ;

Kristiansson, Kati ;

Shah, Sonia ;

Kleber, Marcus E. ;

Guo, Xiuqing ;

Lyytikainen, Leo-Pekka ;

Fava, Cristiano ;

Eriksson, Nidas ;

Nolte, Ilja M. ;

Magnusson, Patrik K. ;

Salfati, Elias L. ;

Rallidis, Loukianos S. ;

Theusch, Elizabeth ;

Smith, Andrew J. P. ;

Folkersen, Lasse ;

Witkowska, Kate ;

Pers, Tune H. ;

Joehanes, Roby ;

Kim, Stuart K. ;

Lataniotis, Lazaros ;

Jansen, Rick ;

Johnson, Andrew D. ;

Warren, Helen ;

Kim, Young Jin ;

Zhao, Wei ;

Wu, Ying ;

Tayo, Bamidele O. ;

Bochud, Murielle ;

Absher, Devin ;

Adair, Linda S. ;

Amin, Najaf ;

Arkingl, Dan E. ;

Axelsson, Tomas .

NATURE GENETICS, 2016, 48 (10) :1171-1184

[4] Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations [J].

Kranzler, Henry R. ;

Zhou, Hang ;

Kember, Rachel L. ;

Smith, Rachel Vickers ;

Justice, Amy C. ;

Damrauer, Scott ;

Tsao, Philip S. ;

Klarin, Derek ;

Baras, Aris ;

Reid, Jeffrey ;

Oyerton, John ;

Rader, Daniel J. ;

Cheng, Zhongshan ;

Tate, Janet P. ;

Becker, William C. ;

Concato, John ;

Xu, Ke ;

Polimanti, Renato ;

Zhao, Hongyu ;

Gelernter, Joel .

NATURE COMMUNICATIONS, 2019, 10 (1)

[5] The Essential Element Manganese, Oxidative Stress, and Metabolic Diseases: Links and Interactions [J].

Li, Longman ;

Yang, Xiaobo .

OXIDATIVE MEDICINE AND CELLULAR LONGEVITY, 2018, 2018

[6] Hepatic metal ion transporter ZIP8 regulates manganese homeostasis and manganese-dependent enzyme activity [J].

Lin, Wen ;

Vann, David R. ;

Doulias, Paschalis-Thomas ;

Wang, Tao ;

Landesberg, Gavin ;

Li, Xueli ;

Ricciotti, Emanuela ;

Scalia, Rosario ;

He, Miao ;

Hand, Nicholas J. ;

Rader, Daniel J. .

JOURNAL OF CLINICAL INVESTIGATION, 2017, 127 (06) :2407-2417

[7] Manganese transporter Slc30a10 controls physiological manganese excretion and toxicity [J].

Mercadante, Courtney J. ;

Prajapati, Milankumar ;

Conboy, Heather L. ;

Dash, Miriam E. ;

Herrera, Carolina ;

Pettiglio, Michael A. ;

Cintron-Rivera, Layra ;

Salesky, Madeleine A. ;

Rao, Deepa B. ;

Bartnikas, Thomas B. .

JOURNAL OF CLINICAL INVESTIGATION, 2019, 129 (12) :5442-5461

[8] Genome-wide association study of toxic metals and trace elements reveals novel associations [J].

Ng, Esther ;

Lind, P. Monica ;

Lindgren, Cecilia ;

Ingelsson, Erik ;

Mahajan, Anubha ;

Morris, Andrew ;

Lind, Lars .

HUMAN MOLECULAR GENETICS, 2015, 24 (16) :4739-4745

[9] Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection [J].

Pardinas, Antonio F. ;

Holmans, Peter ;

Pocklington, Andrew J. ;

Escott-Price, Valentina ;

Ripke, Stephan ;

Carrera, Noa ;

Legge, Sophie E. ;

Bishop, Sophie ;

Cameron, Darren ;

Hamshere, Marian L. ;

Han, Jun ;

Hubbard, Leon ;

Lynham, Amy ;

Mantripragada, Kiran ;

Rees, Elliott ;

MacCabe, James H. ;

McCarroll, Steven A. ;

Baune, Bernhard T. ;

Breen, Gerome ;

Byrne, Enda M. ;

Dannlowski, Udo ;

Eley, Thalia C. ;

Hayward, Caroline ;

Martin, Nicholas G. ;

McIntosh, Andrew M. ;

Plomin, Robert ;

Porteous, David J. ;

Wray, Naomi R. ;

Caballero, Armando ;

Geschwind, Daniel H. ;

Huckins, Laura M. ;

Ruderfer, Douglas M. ;

Santiago, Enrique ;

Sklar, Pamela ;

Stahl, Eli A. ;

Won, Hyejung ;

Agerbo, Esben ;

Als, Thomas D. ;

Andreassen, Ole A. ;

Baekvad-Hansen, Marie ;

Mortensen, Preben Bo ;

Pedersen, Carsten Bocker ;

Borglum, Anders D. ;

Bybjerg-Grauholm, Jonas ;

Djurovic, Srdjan ;

Durmishi, Naser ;

Pedersen, Marianne Giortz ;

Golimbet, Vera ;

Grove, Jakob ;

Hougaard, David M. .

NATURE GENETICS, 2018, 50 (03) :381-+

[10] SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy [J].

Park, Julien H. ;

Hogrebe, Max ;

Fobker, Manfred ;

Brackmann, Renate ;

Fiedler, Barbara ;

Reunert, Janine ;

Rust, Stephan ;

Tsiakas, Konstantinos ;

Santer, Rene ;

Gruneberg, Marianne ;

Marquardt, Thorsten .

GENETICS IN MEDICINE, 2018, 20 (02) :259-268

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