TRPV4-pathy, a novel channelopathy affecting diverse systems.

Détails

ID Serval
serval:BIB_478C598756CA
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Titre
TRPV4-pathy, a novel channelopathy affecting diverse systems.
Périodique
Journal of Human Genetics
Auteur(s)
Dai J., Cho T.J., Unger S., Lausch E., Nishimura G., Kim O.H., Superti-Furga A., Ikegawa S.
ISSN
1435-232X (Electronic)
ISSN-L
1434-5161
Statut éditorial
Publié
Date de publication
2010
Volume
55
Numéro
7
Pages
400-402
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't ; Review
Résumé
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.
Mots-clé
Channelopathies/genetics, Disease/genetics, Humans, Mutation/genetics, Phenotype, Protein Binding, TRPV Cation Channels/chemistry, TRPV Cation Channels/genetics
Pubmed
Web of science
Open Access
Oui
Création de la notice
14/03/2011 14:56
Dernière modification de la notice
20/08/2019 14:53
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