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Related Experiment Videos

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.

Craig L Bennett1, Andrew J Shirk, Huy M Huynh

  • 1Department of Pediatrics, Division of Genetics and Developmental Medicine, University of Washington, Seattle, WA, USA. cbenet@u.washington.edu

Annals of Neurology
|May 4, 2004
PubMed
Summary

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Charcot-Marie-Tooth neuropathy type 1C (CMT1C) is linked to mutations in the SIMPLE gene. This study identified specific SIMPLE mutations and found they are critical for peripheral nerve myelination.

Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Charcot-Marie-Tooth neuropathy type 1C (CMT1C) is a demyelinating peripheral neuropathy.
  • It is caused by mutations in the small integral membrane protein of lysosome/late endosome (SIMPLE) gene.

Purpose of the Study:

  • To investigate the prevalence of SIMPLE gene mutations in inherited neuropathies.
  • To characterize the clinical and electrophysiological features of CMT1C patients.

Main Methods:

  • Screening of 152 probands for SIMPLE mutations.
  • Haplotype analysis and electrophysiological studies.
  • Analysis of SIMPLE gene expression in sciatic nerve cells.

Main Results:

  • SIMPLE mutations were identified in CMT1 patients, including G112S and W116G missense mutations.

Related Experiment Videos

  • Reduced nerve conduction velocities (7.5-27.0m/sec) were observed in CMT1C patients.
  • Expression of SIMPLE was confirmed in Schwann cells and other sciatic nerve cells.

    • Conclusions:

    • The identified SIMPLE mutations are associated with CMT1C.
    • A specific domain within the SIMPLE protein appears critical for peripheral nerve myelination.
    • Schwann cells are the affected cell type in CMT1C, consistent with SIMPLE gene expression.