TRPV4-pathy, a novel channelopathy affecting diverse systems.
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.
Dai
Jin
J
Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo, Japan.
Cho
Tae-Joon
TJ
Unger
Sheila
S
Lausch
Ekkehart
E
Nishimura
Gen
G
Kim
Ok-Hwa
OH
Superti-Furga
Andrea
A
Ikegawa
Shiro
S
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
D050916:TRPV Cation Channels