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Tetraspan myelin protein PMP22 and demyelinating peripheral neuropathies: New facts and hypotheses

✍ Scribed by Hans W. Müller

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
60 KB
Volume
29
Category
Article
ISSN
0894-1491

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✦ Synopsis

It has been demonstrated that abnormal levels of PMP22 expression due to altered gene dosage in CMT1A neuropathy alters Schwann cell growth and differentiation. On the other hand, disease-related missense mutations within transmembrane domains of PMP22 disturb intracellular protein trafficking leading to accumulation of the mutant protein in the endoplasmic reticulum/Golgi compartment. Further, the recently reported association of PMP22 and P0 in peripheral myelin sheds new light on the almost identical phenotypes of CMT1A and CMT1B giving rise to a unifying hypothesis on disease mechanism.

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