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TRPV4-pathy, a novel channelopathy affecting diverse systems.

Authors
Dai, J; Cho, TJ; Unger, S; Lausch, E; Nishimura, G; Kim, OH; Superti-Furga, A; Ikegawa, S
Citation
Journal of human genetics, 55(7):400-402, 2010
Journal Title
Journal of human genetics
ISSN
1434-51611435-232X
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.
MeSH terms
Channelopathies/*geneticsDisease/*geneticsHumansMutation/geneticsPhenotypeProtein BindingTRPV Cation Channels/chemistry/*genetics/metabolism
DOI
10.1038/jhg.2010.37
PMID
20505684
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Radiology
AJOU Authors
김, 옥화
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