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The puzzle of TRPV4 channelopathies
Author(s) -
Nilius Bernd,
Voets Thomas
Publication year - 2013
Publication title -
embo reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.584
H-Index - 184
eISSN - 1469-3178
pISSN - 1469-221X
DOI - 10.1038/embor.2012.219
Subject(s) - channelopathy , transient receptor potential channel , trpv4 , phenotype , biology , genetics , mutation , disease , gene , neuroscience , loss function , pathogenesis , ankyrin , mechanism (biology) , bioinformatics , medicine , receptor , immunology , pathology , philosophy , epistemology
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.