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The yin and yang of claudin-14 function in human diseases.

ABSTRACT: Claudins are tight junction integral membrane proteins that are key regulators of the paracellular pathway. The paracellular pathways in the inner ear and in the kidney are predominant routes for transepithelial cation transport. Mutations in claudin-14 cause nonsyndromic recessive deafness DFNB29. A recent genome-wide association study has identified claudin-14 as a major risk gene of hypercalciuric nephrolithiasis. In vitro analyses show that claudin-14 functions as a cation barrier in epithelial cells. The barrier function of claudin-14 is crucial for generating the K(+) gradient between perilymph and endolymph in the inner ear. However, neither homozygous individuals with DFNB29 mutations nor claudin-14 knockout mice show any renal dysfunction. In this short review, I discuss several possible mechanisms to integrate the physiological function of claudin-14 in the inner ear and the kidney.

SUBMITTER: Hou J

PROVIDER: S-EPMC3733995 | biostudies-literature | 2012 Jul

REPOSITORIES: biostudies-literature

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The yin and yang of claudin-14 function in human diseases.

Hou Jianghui J

Annals of the New York Academy of Sciences 20120701

Claudins are tight junction integral membrane proteins that are key regulators of the paracellular pathway. The paracellular pathways in the inner ear and in the kidney are predominant routes for transepithelial cation transport. Mutations in claudin-14 cause nonsyndromic recessive deafness DFNB29. A recent genome-wide association study has identified claudin-14 as a major risk gene of hypercalciuric nephrolithiasis. In vitro analyses show that claudin-14 functions as a cation barrier in epithel ...[more]

PMID: 22731732

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