PMID- 9040736
OWN - NLM
STAT- MEDLINE
DCOM- 19970326
LR  - 20220129
IS  - 0028-3878 (Print)
IS  - 0028-3878 (Linking)
VI  - 48
IP  - 2
DP  - 1997 Feb
TI  - Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary 
      neuropathy with liability to pressure palsies.
PG  - 445-9
AB  - 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 
      Pzero mRNA. Sural nerves from HNPP patients showed normal immunostaining with 
      monoclonal antibodies against PMP-22, Pzero, 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.
FAU - Schenone, A
AU  - Schenone A
AD  - Department of Neurological Sciences, University of Genoa, Italy.
FAU - Nobbio, L
AU  - Nobbio L
FAU - Mandich, P
AU  - Mandich P
FAU - Bellone, E
AU  - Bellone E
FAU - Abbruzzese, M
AU  - Abbruzzese M
FAU - Aymar, F
AU  - Aymar F
FAU - Mancardi, G L
AU  - Mancardi GL
FAU - Windebank, A J
AU  - Windebank AJ
LA  - eng
GR  - 580/TI_/Telethon/Italy
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Neurology
JT  - Neurology
JID - 0401060
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
RN  - 0 (RNA, Messenger)
SB  - IM
MH  - Base Sequence
MH  - Edema/pathology
MH  - Genetic Diseases, Inborn/*genetics/pathology
MH  - Humans
MH  - Molecular Sequence Data
MH  - Myelin Proteins/*genetics
MH  - Myelin Sheath
MH  - Paralysis/*genetics/pathology
MH  - Peripheral Nervous System Diseases/*genetics/pathology
MH  - Pressure
MH  - RNA, Messenger/*genetics
MH  - Recurrence
EDAT- 1997/02/01 00:00
MHDA- 1997/02/01 00:01
CRDT- 1997/02/01 00:00
PHST- 1997/02/01 00:00 [pubmed]
PHST- 1997/02/01 00:01 [medline]
PHST- 1997/02/01 00:00 [entrez]
AID - 10.1212/wnl.48.2.445 [doi]
PST - ppublish
SO  - Neurology. 1997 Feb;48(2):445-9. doi: 10.1212/wnl.48.2.445.