Genetic factors for nerve susceptibility to injuries – Lessons from PMP22 deficiency

Research output: Contribution to journalArticlepeer-review


Genetic factors may be learnt from families with gene mutations that render nerve-injury susceptibility even to ordinary physical activities. A typical example is hereditary neuropathy with liability to pressure palsies (HNPP). HNPP is caused by a heterozygous deletion of PMP22 gene. PMP22 deficiency disrupts myelin junctions (such as tight junction and adherens junctions), leading to abnormally increased myelin permeability that explains the nerve susceptibility to injury. This finding should motivate investigators to identify additional genetic factors contributing to nerve vulnerability of injury.

Original languageEnglish (US)
Pages (from-to)1661-1664
Number of pages4
JournalNeural Regeneration Research
Issue number18
StatePublished - Sep 15 2014


  • Action potential propagation
  • Adherens junction
  • Charcot-Marie-Tooth disease
  • Myelin
  • Myelin permeability
  • Nerve injury
  • Peripheral myelin protein-22
  • PMP22
  • Tight junction

ASJC Scopus subject areas

  • Developmental Neuroscience


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