Expression of peripheral myelin protein zero in sural nerve of patients with Charcot-Marie-Tooth disease 1B.
A Charcot-Marie-Tooth disease 1B (CMT1B) family with a mutation of the Po gene is presented. A to G substitution of nucleotide 389 in exon 3 resulted in Lys 131 Arg substitution. Immunostaining for Po in biopsied sural nerve from one family member with CMT1B was expressed in a small number of myelinated fibers. Immunoblot analysis for Po revealed that it was of normal molecular weight (29 kDa) although significantly reduced in amount. This heterozygous mutation could lead to a reduction in the total amount of normal protein in peripheral nerves through a mechanism of loss of function.
Tachi
N
N
School of Health Sciences, Sapporo Medical University, Sapporo, Japan.
Kozuka
N
N
Ohya
K
K
Chiba
S
S
Sasaki
K
K
Uyemura
K
K
D019943:Amino Acid Substitution / Q000235:genetics; D001706:Biopsy; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002648:Child; D005091:Exons; D005260:Female; D015870:Gene Expression / Q000502:physiology; D006580:Genetic Carrier Screening; D006801:Humans; D020125:Mutation, Missense; D018993:Myelin P0 Protein / Q000235:genetics*; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D010375:Pedigree; D013497:Sural Nerve / Q000473:pathology*
D018993:Myelin P0 Protein