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Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot‐Marie‐Tooth disease type 1A
Author(s) -
Yoshikawa Hiroo,
Nishimura Tomoya,
Nakatsuji Yuji,
Fujimura Harutoshi,
Himoro Masato,
Hayasaka Kiyoshi,
Sakoda Saburo,
Yanagihara Takehiko
Publication year - 1994
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410350412
Subject(s) - peripheral myelin protein 22 , myelin , gene expression , messenger rna , peripheral , northern blot , gene , disease , blot , pathology , medicine , pathogenesis , biology , central nervous system , genetics
The human peripheral myelin protein 22 (PMP‐22) gene has been mapped to chromosome 17p11.2 in the duplicated region associated with Charcot‐Marie‐Tooth disease type 1A. Southern blot analysis using PMP‐22 as a probe indicated that the PMP‐22 gene was duplicated in 5 patients from unrelated Japanese families with Charcot‐Marie‐Tooth disease type 1. In order to investigate whether or not an extra copy of PMP‐22 has an effect on its gene expression, we analyzed relative expression of messenger RNA for PMP‐22 and protein 0 (P0) against beta‐actin by Northern blotting in biopsied nerves of the patients with type 1A disease, and compared the results with those of patients having other demyelinating neuropathies and the autopsied nerves of patients without neuropathies. The relative expression of PMP‐22 messenger RNA in 5 patients with Charcot‐Marie‐Tooth disease type 1A was significantly higher than that in 5 patients with other demyelinating neuropathies ( p < 0.05). There was no statistically significant difference in P0 expression between them. This study provided direct evidence for elevated expression of PMP‐22 in peripheral nerves of patients with Charcot‐Marie‐Tooth disease type 1A as the result of a gene dosage effect. However, the relation between elevated expression of PMP‐22 and the mechanism causing demyelination remains undetermined.