CMT 2C: TRPV4-mediated channelopathies

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Channels (Austin). 2010 Jul 6;4(4).

TRPV4-mediated channelopathies.

Verma P, Kumar A, Goswami C.

National Institute of Science Education and Research, Institute of Physics

Campus, Sachivalaya Marg, Bhubaneswar, India.

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.