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Related Experiment Videos

PMP22 Thr118Met is not a clinically relevant CMT1 marker.

P Young1, F Stögbauer, B Eller

  • 1Institute of Cell Biology, Swiss Federal Institute of Technology, ETH Hönggerberg, Zurich. peter.young@cell.biol.ethz.ch

Journal of Neurology
|November 18, 2000
PubMed
Summary

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The PMP22 Thr118Met variant is generally not a cause of Charcot-Marie-Tooth disease type 1 (CMT1). While it may predispose individuals to CMT1 with other factors, it is not considered a clinically relevant disease marker.

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • The PMP22 Thr118Met variant's role in Charcot-Marie-Tooth disease type 1 (CMT1) is debated, with some cases suggesting it acts as a recessive mutation.
  • Previous findings indicated hemizygosity for this variant in CMT1 patients, raising questions about its functional relevance.

Purpose of the Study:

  • To investigate the diagnostic value and carrier frequency of the PMP22 Thr118Met variant.
  • To determine if the PMP22 Thr118Met variant is a clinically relevant disease marker for CMT1.

Main Methods:

  • Utilized allele-specific PCR to screen for PMP22 Thr118Met carriers.
  • Screened 1018 individuals from the German general population, 104 HNPP probands, 187 CMT1 patients with duplication, and 22 CMT1 patients without detectable PMP22 anomalies.

Related Experiment Videos

  • Assessed nerve conduction velocities in identified carriers.

    • Main Results:

    • Identified PMP22 Thr118Met carriers in the general population (AF=0.007), HNPP group (AF=0.01), and CMT1 groups (AF=0.016 and 0.05).
    • Nerve conduction velocities in carriers did not significantly differ from typical values within their respective groups.
    • Hemizygous occurrence of the 118Met allele generally does not cause CMT1.

    Conclusions:

    • The PMP22 Thr118Met variant, in hemizygous state, is typically not a cause of CMT1.
    • While in vitro studies show abnormalities, the variant's association with CMT1 may be coincidental or require additional factors for disease manifestation.
    • The PMP22 Thr118Met mutation is not considered a clinically relevant disease marker for CMT1.