Peripheral neuropathies caused by mutations in the myelin protein zero.
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.
Shy
Michael E
ME
Wayne State University, Department of Neurology, 421 Ea Canfield, Elliman Bldg 3206, Detroit, MI 48201, USA. m.shy@wayne.edu
D004252:DNA Mutational Analysis; D006801:Humans; D008954:Models, Biological; D008958:Models, Molecular; D009154:Mutation; D018993:Myelin P0 Protein / Q000235:genetics*; D010523:Peripheral Nervous System Diseases / Q000235:genetics*; D010641:Phenotype
D018993:Myelin P0 Protein