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Regulation of magnesium balance: lessons learned from human genetic disease.


ABSTRACT: Magnesium (Mg(2+)) is the fourth most abundant cation in the body. Thus, magnesium homeostasis needs to be tightly regulated, and this is facilitated by intestinal absorption and renal excretion. Magnesium absorption is dependent on two concomitant pathways found in both in the intestine and the kidneys: passive paracellular transport via claudins facilitates bulk magnesium absorption, whereas active transcellular pathways mediate the fine-tuning of magnesium absorption. The identification of genes responsible for diseases associated with hypomagnesaemia resulted in the discovery of several magnesiotropic proteins. Claudins 16 and 19 form the tight junction pore necessary for mass magnesium transport. However, most of the causes of genetic hypomagnesaemia can be tracked down to transcellul

SUBMITTER: de Baaij JH 

PROVIDER: S-EPMC4455826 | biostudies-literature | 2012 Feb

REPOSITORIES: biostudies-literature