Literature DB >> 29344503

Genetics of Magnesium Disorders.

Heng Li1,2, Shiren Sun3, Jianghua Chen1, Goushuang Xu3, Hanmin Wang3, Qi Qian2.   

Abstract

BACKGROUND: Magnesium (Mg2+), the second most abundant cation in the cell, is woven into a multitude of cellular functions. Dysmagnesemia is associated with multiple diseases and, when severe, can be life-threatening.
SUMMARY: This review discusses Mg2+ homeostasis and function with specific focus on renal Mg2+ handling. Intrarenal channels and transporters related to Mg2+ absorption are discussed. Unraveling the rare genetic diseases with manifestations of dysmagnesemia has greatly increased our understanding of the complex and intricate regulatory network in the kidney, specifically, functions of tight junction proteins including claudin-14, -16, -19, and -10; apical ion channels including: TRPM6, Kv1.1, and ROMK; small regulatory proteins including AC3 and ANK3; and basolateral proteins including EGF receptor, γ-subunit (FXYD2) of Na-K-ATPase, Kir4.1, CaSR, CNNM2, and SLC41A. Although our understanding of Mg2+ handling of the kidney has expanded considerably in the last two decades, many questions remain. Future studies are needed to elucidate a multitude of unknown aspects of Mg2+ handling in the kidney. KEY MESSAGE: Understanding rare and genetic diseases of Mg2+ dysregulation has expanded our knowledge and furthers the development of strategies for preventing and managing dysmagnesemia.

Entities:  

Keywords:  Claudins; Dysmagnesemia; Ion channels; TRPM6; Tight junction proteins

Year:  2017        PMID: 29344503      PMCID: PMC5757602          DOI: 10.1159/000477730

Source DB:  PubMed          Journal:  Kidney Dis (Basel)        ISSN: 2296-9357


  105 in total

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2.  Genetic variations in magnesium-related ion channels may affect diabetes risk among African American and Hispanic American women.

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3.  Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype.

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Journal:  Eur J Endocrinol       Date:  2016-11       Impact factor: 6.664

4.  Regulation of Mg2+ Reabsorption and Transient Receptor Potential Melastatin Type 6 Activity by cAMP Signaling.

Authors:  Maxime G Blanchard; Wararat Kittikulsuth; Anil V Nair; Jeroen H F de Baaij; Femke Latta; Jonathan R Genzen; Donald E Kohan; René J M Bindels; Joost G J Hoenderop
Journal:  J Am Soc Nephrol       Date:  2015-07-06       Impact factor: 10.121

5.  Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia.

Authors:  Vladimir Chubanov; Siegfried Waldegger; Michael Mederos y Schnitzler; Helga Vitzthum; Martin C Sassen; Hannsjörg W Seyberth; Martin Konrad; Thomas Gudermann
Journal:  Proc Natl Acad Sci U S A       Date:  2004-02-19       Impact factor: 11.205

6.  CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Authors:  Martin Konrad; Jianghui Hou; Stefanie Weber; Jörg Dötsch; Jameela A Kari; Tomas Seeman; Eberhard Kuwertz-Bröking; Amira Peco-Antic; Velibor Tasic; Katalin Dittrich; Hammad O Alshaya; Rodo O von Vigier; Sabina Gallati; Daniel A Goodenough; André Schaller
Journal:  J Am Soc Nephrol       Date:  2007-11-14       Impact factor: 10.121

Review 7.  Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase gamma-subunit.

Authors:  Iwan C Meij; Jan B Koenderink; Joke C De Jong; Jan Joep H H M De Pont; Leo A H Monnens; Lambert P W J Van Den Heuvel; Nine V A M Knoers
Journal:  Ann N Y Acad Sci       Date:  2003-04       Impact factor: 5.691

8.  Posterior reversible encephalopathy syndrome (PRES) and hypomagnesemia: A frequent association?

Authors:  A Chardain; V Mesnage; S Alamowitch; F Bourdain; S Crozier; T Lenglet; D Psimaras; S Demeret; P Graveleau; K Hoang-Xuan; R Levy
Journal:  Rev Neurol (Paris)       Date:  2016-06-28       Impact factor: 2.607

9.  Claudin-16 and claudin-19 interact and form a cation-selective tight junction complex.

Authors:  Jianghui Hou; Aparna Renigunta; Martin Konrad; Antonio S Gomes; Eveline E Schneeberger; David L Paul; Siegfried Waldegger; Daniel A Goodenough
Journal:  J Clin Invest       Date:  2008-02       Impact factor: 14.808

Review 10.  Splice variants of the gamma subunit (FXYD2) and their significance in regulation of the Na, K-ATPase in kidney.

Authors:  Elena Arystarkhova; Kathleen J Sweadner
Journal:  J Bioenerg Biomembr       Date:  2005-12       Impact factor: 3.853

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Authors:  Mohammed Z Ferdaus; Anindit Mukherjee; Jonathan W Nelson; Philip J Blatt; Lauren N Miller; Andrew S Terker; Olivier Staub; Dao-Hong Lin; James A McCormick
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Review 3.  Novel Aspects of Renal Magnesium Homeostasis.

Authors:  Paula Giménez-Mascarell; Carlotta Else Schirrmacher; Luis Alfonso Martínez-Cruz; Dominik Müller
Journal:  Front Pediatr       Date:  2018-04-09       Impact factor: 3.418

Review 4.  The Coordination Chemistry of Bio-Relevant Ligands and Their Magnesium Complexes.

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