The PMP22 gene and its related diseases.

Jun Li, Brett Parker, Colin Martyn, Chandramohan Natarajan, Jiasong Guo

Research output: Contribution to journalReview articlepeer-review

143 Scopus citations

Abstract

Peripheral myelin protein-22 (PMP22) is primarily expressed in the compact myelin of the peripheral nervous system. Levels of PMP22 have to be tightly regulated since alterations of PMP22 levels by mutations of the PMP22 gene are responsible for >50 % of all patients with inherited peripheral neuropathies, including Charcot-Marie-Tooth type-1A (CMT1A) with trisomy of PMP22, hereditary neuropathy with liability to pressure palsies (HNPP) with heterozygous deletion of PMP22, and CMT1E with point mutations of PMP22. While overexpression and point-mutations of the PMP22 gene may produce gain-of-function phenotypes, deletion of PMP22 results in a loss-of-function phenotype that reveals the normal physiological functions of the PMP22 protein. In this article, we will review the basic genetics, biochemistry and molecular structure of PMP22, followed by discussion of the current understanding of pathogenic mechanisms involving in the inherited neuropathies with mutations in PMP22 gene.

Original languageEnglish (US)
Pages (from-to)673-698
Number of pages26
JournalMolecular Neurobiology
Volume47
Issue number2
DOIs
StatePublished - Apr 2013

ASJC Scopus subject areas

  • Neurology
  • Cellular and Molecular Neuroscience

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