Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies

Angelo Schenone, L. Nobbio, P. Mandich, E. Bellone, M. Abbruzzese, F. Aymar, G. L. Mancardi, A. J. Windebank

Research output: Contribution to journalArticle

57 Scopus citations

Abstract

Hereditary neuropathy with liability to pressure palsies (HNPP) is associated with a deletion in chromosome 17p11.2, including the gene for the peripheral myelin protein 22 (PMP-22). Because of the proposal that a decreased dosage of the PMP-22 gene was the cause of HNPP, we evaluated sural nerves from eight patients with the 17p11.2 deletion and from five normal controls. The relative amount of PMP-22 mRNA was significantly lower in HNPP patients compared with normal controls (p < 0.02) using a semiquantitative reverse transcriptase-polymerase chain reaction. There was no significant decrease of P(o) mRNA. Sural nerves from HNPP patients showed normal immunostaining with monoclonal antibodies against PMP-22, P(o), and myelin basic protein, and only rare myelinated fibers, classified as 'tomacula,' showed a patchy staining of the compact myelin with monoclonal antibody against PMP-22. The significant underexpression of PMP-22 mRNA in HNPP patients compared with normal controls demonstrates that a decreased dosage of the PMP-22 gene is the most likely pathogenetic mechanism in HNPP.

Original languageEnglish (US)
Pages (from-to)445-449
Number of pages5
JournalNeurology
Volume48
Issue number2
DOIs
StatePublished - Feb 1997

ASJC Scopus subject areas

  • Clinical Neurology

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