The yin and yang of claudin-14 function in human diseases
Article first published online: 25 JUN 2012
© 2012 New York Academy of Sciences.
Annals of the New York Academy of Sciences
Volume 1258, Barriers and Channels Formed by Tight Junction Proteins II pages 185–190, July 2012
How to Cite
Hou, J. (2012), The yin and yang of claudin-14 function in human diseases. Annals of the New York Academy of Sciences, 1258: 185–190. doi: 10.1111/j.1749-6632.2012.06529.x
- Issue published online: 25 JUN 2012
- Article first published online: 25 JUN 2012
- tight junction;
- ion channel;
- inner ear
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.