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Related Experiment Video

Updated: Jun 17, 2026

Yeast Luminometric and Xenopus Oocyte Electrophysiological Examinations of the Molecular Mechanosensitivity of TRPV4
12:09

Yeast Luminometric and Xenopus Oocyte Electrophysiological Examinations of the Molecular Mechanosensitivity of TRPV4

Published on: December 31, 2013

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

Guida Landouré1, Anselm A Zdebik, Tara L Martinez

  • 1Department of Medicine, University College London, UK.

Nature Genetics
|December 29, 2009
PubMed
Summary

Mutations in the TRPV4 gene cause Charcot-Marie-Tooth disease type 2C (CMT2C), a neuropathy affecting limb and respiratory muscles. These TRPV4 mutations lead to cellular toxicity and altered channel function, expanding its known disease spectrum.

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Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
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Last Updated: Jun 17, 2026

Yeast Luminometric and Xenopus Oocyte Electrophysiological Examinations of the Molecular Mechanosensitivity of TRPV4
12:09

Yeast Luminometric and Xenopus Oocyte Electrophysiological Examinations of the Molecular Mechanosensitivity of TRPV4

Published on: December 31, 2013

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
07:43

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons

Published on: January 7, 2019

Area of Science:

  • Genetics and Molecular Biology
  • Neuroscience
  • Cell Biology

Background:

  • Charcot-Marie-Tooth disease type 2C (CMT2C) is an inherited neuropathy causing progressive muscle weakness.
  • Previous research linked CMT2C to chromosome 12q24.11.

Purpose of the Study:

  • To identify the genetic cause of CMT2C in two families.
  • To investigate the functional consequences of identified mutations in the TRPV4 gene.

Main Methods:

  • Linkage analysis to identify the chromosomal region associated with CMT2C.
  • Gene sequencing to detect mutations within the linked region.
  • Functional studies in TRPV4-transfected cells to assess mutation effects.

Main Results:

  • Identified two heterozygous missense mutations (R269C and R269H) in the TRPV4 gene in CMT2C patients.
  • Observed increased cellular toxicity and altered channel activity of TRPV4 mutants.
  • Located mutations in a distinct region of TRPV4 ankyrin repeats.

Conclusions:

  • TRPV4 gene mutations are a cause of Charcot-Marie-Tooth disease type 2C.
  • TRPV4 mutations can lead to peripheral nerve degeneration, in addition to skeletal dysplasias.
  • Phenotypic variability may result from differential effects of mutations on protein interactions.