Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome.

Article Details

Citation

Tanemoto M, Abe T, Uchida S, Kawahara K

Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome.

FEBS Lett. 2014 Mar 18;588(6):899-905. doi: 10.1016/j.febslet.2014.02.024. Epub 2014 Feb 20.

PubMed ID
24561201 [ View in PubMed
]
Abstract

The Kir4.1/Kir5.1 channel mediates basolateral K(+) recycling in renal distal tubules; this process is critical for Na(+) reabsorption at the tubules. Mutations in Kir4.1 are associated with EAST/SeSAME syndrome, a genetic disorder characterized by renal salt wasting. In this study, we found that MAGI-1 anchors Kir4.1 channels (Kir4.1 homomer and Kir4.1/Kir5.1 heteromer) and contributes to basolateral K(+) recycling. The Kir4.1 A167V mutation associated with EAST/SeSAME syndrome caused mistrafficking of the mutant channels and inhibited their expression on the basolateral surface of tubular cells. These findings suggest mislocalization of the Kir4.1 channels contributes to renal salt wasting.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
ATP-sensitive inward rectifier potassium channel 10P78508Details