Unraveling the mechanism by which TRPV4 mutations cause skeletal dysplasias.

Journal Article (Journal Article)

Transient Receptor Potential Vanilloid 4 (TRPV4) is a mechano- and osmosensitive cation channel that is highly expressed in chondrocytes, the cells in cartilage. A large number of mutations in TRPV4 have been linked to skeletal dysplasias, and the goal of this addendum is to shed light on the mechanisms by which mutations in TRPV4 can cause skeletal dysplasias by focusing on 3 recent publications. These papers suggest that skeletal dysplasia-causing TRPV4 mutations reprogram chondrocytes to increase follistatin production, which inhibits BMP signaling, thus slowing the process of endochondral ossification and leading to skeletal dysplasia. In spite of these important advances in our understanding of the disease mechanism, much remains to be elucidated. Nonetheless, these new data suggest that inhibiting aberrant TRPV4 activity in the cartilage may be a promising direction for therapeutic intervention.

Full Text

Duke Authors

Cited Authors

  • Leddy, HA; McNulty, AL; Guilak, F; Liedtke, W

Published Date

  • 2014

Published In

Volume / Issue

  • 2 / 1

Start / End Page

  • e962971 -

PubMed ID

  • 26942100

Pubmed Central ID

  • PMC4755236

International Standard Serial Number (ISSN)

  • 2167-5511

Digital Object Identifier (DOI)

  • 10.4161/2167549X.2014.962971


  • eng

Conference Location

  • United States