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Peripheral myelin protein-22 expression in charcot-marie-tooth disease type 1a sural nerve biopsies

✍ Scribed by Dr. C. O. Hanemann; G. Stoll; D. D'Urso; W. Fricke; J. J. Martin; C. Van Broeckhoven; G. L. Mancardi; I. Bartke; H. W. Müller

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
695 KB
Volume
37
Category
Article
ISSN
0360-4012

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✦ Synopsis

Peripheral myelin protein-22 (PMP22) is expressed in myelinating Schwann cells and shows significant homology to murine growth arrest-specific gene gas3. Charcot-Marie-Tooth disease type l a (CMTla) is a common hereditary demyelinating neuropathy. Recently it was demonstrated that the gene for PMP22 is duplicated in CMTla patients. A gene dosage mechanism has been postulated to cause CMTla. According to this hypothesis, the increase in copy number of PMP22 gene would lead to an elevated expression of PMP22 and thereby cause the demyelinating phenotype of CMTla. In the present communication we analyzed PMP22 mRNA and protein expression in sural nerve biopsies from CMTla patients and normal controls. We show that PMP22 mRNA expression in CMTla is not uniform. We found both elevated as well as normal PMP22 mRNA levels in patients. Interestingly, the highest PMP22 mRNA level was found in the least affected patient. In contrast to the mRNA levels, PMP22 was clearly reduced in all CMTla patients as shown by immunohistochemistry. Thus the CMTla phenotype may not be strictly correlated with increased PMP22 mRNA and protein expression. Possible roles of PMP22 in the pathogenesis of CMTla are discussed.

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