TRPV4-mediated channelopathies

Transient Receptor Potential Channels as Drug Targets: From the Science of Basic Research to the Art of Medicine

“…Mutations causing neuropathies probably have a lower penetrance than mutations causing skeletal dysplasias; this may explain why skeletal diseases often show no neurologic symptoms. Because of the high expression of TRPV4 in the inner ear and the urothelium, it is not surprising that some patients have also hearing problems and/or bladder symptoms such as overactive bladder and incontinence (reviewed in Verma et al, 2010).…”

Why individual thermo sensation and pain perception varies? Clue of disruptive mutations in TRPVs from 2504 human genome data

“…This is in agreement with the many mutations in TRPV4 which have been linked with the developmental disorders commonly termed as "channelopathies." 23 In TRPV5, the substitutions were not clustered in the any particular region. Though there are several mutations detected, according to the analysis only very few (14) of them seem to be deleterious.…”

“…30 Similarly, Thr-89-Ile, Lys-197-Arg, and Leu-199-Phe mutations in TRPV4 individually lead to metatropic dysplasia. 23,31 Similarly, a Glu-183-Lys is associated with spondyloepiphyseal dysplasia Maroteux type, 32 and an Arg-232-Cys change with scapuloperoneal spinal muscular atrophy. 33 Accordingly, Arg-269-His and Arg-269-His changes lead to Charcot-Marie-Tooth disease 2C.…”

Right time - right location - right move: TRPs find motors for common functions

“…This is also supported by the fact that mutations in either kinesin (Kif1b) or TRPV4 results in same pathophysiology and development of Charcot-Marie-Tooth disease type 2 (CMT2). [33][34][35][36][37] Like kinesins, myosin motors are also involved in the regulation of TRP channels. Mutations in TRP channels as well as in different non-conventional myosin motors develop similar pathophysiological disorders and other syndromes like deafness, blindness, and other sensory defects.…”