The Puzzle of TRPV4 Channelopathies

Overview

Journal EMBO Rep

Specialty Molecular Biology

Date 2013 Jan 12

PMID 23306656

Citations 152

Authors

Bernd Nilius

Thomas Voets

Affiliations

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Abstract

Hereditary channelopathies, that is, mutations in channel genes that alter channel function and are causal for the pathogenesis of the disease, have been described for several members of the transient receptor potential channel family. Mutations in the TRPV4 gene, encoding a polymodal Ca(2+) permeable channel, are causative for several human diseases, which affect the skeletal system and the peripheral nervous system, with highly variable phenotypes. In this review, we describe the phenotypes of TRPV4 channelopathies and overlapping symptoms. Putative mechanisms to explain the puzzle, and how mutations in the same region of the channel cause different diseases, are discussed and experimental approaches to tackle this surprising problem are suggested.

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