Peripheral neuropathies caused by mutations in the myelin protein zero

[Guest guest]

J Neurol Sci. 2006 Jan 12

Peripheral neuropathies caused by mutations in the myelin protein

zero.

Shy ME.

Wayne State University, Department of Neurology, 421 Ea Canfield,

Elliman Bldg 3206, Detroit, MI 48201, United States.

Charcot-Marie-Tooth disease type 1B (CMT1B) is caused by mutations in

the major PNS myelin protein myelin protein zero (MPZ). MPZ is a

member of the immunoglobulin supergene family and functions as an

adhesion molecule helping to mediate compaction of PNS myelin.

Mutations in MPZ appear to either disrupt myelination during

development, leading to severe early onset neuropathies, or to

disrupt axo-glial interactions leading to late onset neuropathies in

adulthood. Identifying molecular pathways involved in early and late

onset CMT1B will be crucial to understand how MPZ mutations cause

CMT1B so that rational therapies for both early and late onset

neuropathies can be developed.