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Many facets of the peripheral myelin protein PMP22 in myelination and disease
Author(s) -
Naef Roland,
Suter Ueli
Publication year - 1998
Publication title -
microscopy research and technique
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 118
eISSN - 1097-0029
pISSN - 1059-910X
DOI - 10.1002/(sici)1097-0029(19980601)41:5<359::aid-jemt3>3.0.co;2-l
Subject(s) - peripheral myelin protein 22 , myelin , peripheral nervous system , biology , schwann cell , point mutation , neuroscience , mutation , peripheral neuropathy , disease , genetics , gene , immunology , pathology , microbiology and biotechnology , central nervous system , medicine , endocrinology , diabetes mellitus
Peripheral myelin protein 22 (PMP22) is a small, hydrophobic glycoprotein, which is most prominently expressed by Schwann cells as a component of compact myelin of the peripheral nervous system (PNS). Recent progress in molecular genetics revealed that mutations affecting the PMP22 gene including duplications, deletions, and point mutations are responsible for the most common forms of hereditary peripheral neuropathies including Charcot‐Marie‐Tooth disease type 1A (CMT1A), hereditary neuropathy with liability to pressure palsies (HNPP), and a subtype of Dejerine‐Sottas Syndrome (DSS). Functionally, PMP22 is involved in correct myelination during development of peripheral nerves, the stability of myelin, and the maintenance of axons. While most of these functions relate to a role of PMP22 as a structural component of myelin, PMP22 has also been proposed as a regulator of Schwann cell proliferation and differentiation. In this review, we will discuss our current knowledge of PMP22 and its related proteins in the normal organism as well as in disease. In particular, we will focus on how the function of PMP22 and its regulation may be relevant to particular disease mechanisms. Microsc. Res. Tech. 41:359–371, 1998. © 1998 Wiley‐Liss, Inc.