title: TRPV4-pathy, a novel channelopathy affecting diverse systems.
abstract: Transient receptor potential cation channel, subfamily V, member 4 (TRPV4) is a calcium-permeable nonselective cation channel of unknown biological function. TRPV4 mutation was first identified in brachyolmia, and then in a spectrum of autosomal-dominant skeletal dysplasias, which includes Kozlowski type of spondylometaphyseal dysplasia, metatropic dysplasia, Maroteaux type of spondyloepiphyseal dysplasia and parastremmatic dysplasia. Recently, TRPV4 mutation has also been identified in a spectrum of neuromuscular diseases that includes congenital distal spinal muscular atrophy (SMA), scapuloperoneal SMA, and hereditary motor and sensory neuropathy type IIC. These diverse spectrums of diseases compose a novel channelopathy, TRPV4-pathy, which could further include polygenic traits such as serum sodium concentration and a chronic obstructive pulmonary disease. In this review, we clarified the TRPV4 mutation spectrum, and discussed the phenotypic complexity of TRPV4-pathy and its pathogenic mechanisms. TRPV4-pathy may extend further to other monogenic and polygenic diseases.
authors.affiliation: Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo, Japan.
authors.forename: Jin
authors.initials: J
authors.lastname: Dai
authors.forename: Tae-Joon
authors.initials: TJ
authors.lastname: Cho
authors.forename: Sheila
authors.initials: S
authors.lastname: Unger
authors.forename: Ekkehart
authors.initials: E
authors.lastname: Lausch
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.forename: Ok-Hwa
authors.initials: OH
authors.lastname: Kim
authors.forename: Andrea
authors.initials: A
authors.lastname: Superti-Furga
authors.forename: Shiro
authors.initials: S
authors.lastname: Ikegawa
mesh_terms: D053447:Channelopathies / Q000235:genetics*; D004194:Disease / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D011485:Protein Binding; D050916:TRPV Cation Channels / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism
chemical_list: D050916:TRPV Cation Channels