title: TRPV4-mediated channelopathies.
abstract: Transient receptor potential vanilloid sub type 4 (TRPV4) is a member of non-selective cation channel that is important for sensation of several physical and chemical stimuli and also involved in multiple physiological functions. Recently it gained immense medical and clinical interest as several independent studies have demonstrated that mutations in the TRPV4 gene can results in genetic disorders like Brachyolmia, Charcot-Marie-Tooth disease type 2C, Spinal Muscular Atrophy and Hereditary Motor and Sensory Neuropathy type 2. Close analysis of the data obtained from these naturally occurring as well as other TRPV4 mutants suggest that it is not the altered channel activity of these mutants per se, but the involvement and interaction of other factors that seem to modulate oligomerization, trafficking and degradation of TRPV4 channels. Also, these factors can either enhance or reduce the activity of TRPV4. In addition, there are some potential signaling events that can also be involved in these genetic disorders. In this review, we analyzed how and what extent certain cellular and molecular functions like oligomerization, surface expression, ubiquitination and functional interactions might be affected by these mutations.
authors.affiliation: National Institute of Science Education and Research, Institute of Physics Campus, Sachivalaya Marg, Bhubaneswar, India.
authors.forename: Pratibha
authors.initials: P
authors.lastname: Verma
authors.forename: Ashutosh
authors.initials: A
authors.lastname: Kumar
authors.forename: Chandan
authors.initials: C
authors.lastname: Goswami
mesh_terms: D000818:Animals; D053447:Channelopathies / Q000235:genetics / Q000378:metabolism*; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D010641:Phenotype; D011487:Protein Conformation; D055503:Protein Multimerization; D015398:Signal Transduction / Q000235:genetics; D013329:Structure-Activity Relationship; D050916:TRPV Cation Channels / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*
chemical_list: D050916:TRPV Cation Channels; C416986:TRPV4 protein, human