Premium
New Vistas on the Pathomechanism of Charcot‐Marie‐Tooth and Related Peripheral Neuropathies
Author(s) -
MÜLLER H. W.
Publication year - 1999
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/j.1749-6632.1999.tb08578.x
Subject(s) - schwann cell , myelin , peripheral myelin protein 22 , missense mutation , phenotype , biology , neuroscience , peripheral , microbiology and biotechnology , cell , remyelination , immunology , gene , genetics , medicine , central nervous system
A gene‐dosage mechanism in CMT1A and HNPP has been postulated previously. Here, recent findings are discussed concerning (i) the functional consequences of altered PMP22 expression on Schwann cell growth regulation and on the capacity of genetically modified Schwann cells to myelinate peripheral axons, (ii) the cell physiological effects caused by the expression of certain disease‐related missense mutations of PMP22 that are known to alter the Schwann cell phenotype and impair myelination in vivo , and (iii) the pathomechanism of CMT1 in light of findings on a novel association between PMP22 and P 0 in PNS myelin.