EXPRESSION OF PO PROTEIN IN SURAL NERVE OF A PATIENT WITH HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE-III

We present expression of Po protein and Po mRNA on the sural nerve of a patient with hereditary motor and sensory neuropathy type III. This patient was identified with a point mutation in Po gene, which resulte d in the substitution of glycine for arginine in transmembrane domain of Po protein. An electron microscopic examination revealed very thin myelinated fibers surrounded by multilamellated onion bulbs composed w ith greatly proliferated Schwann cells. An immunocytochemical and immu noblot analysis is showed Po protein normally expressed in myelin on t he sural nerve. By in situ hybridization, mRNA of Po protein was detec ted at normal levels in Schwann cell cytoplasm. Those observations ind icated that there was no truncated myelin Po protein in peripheral ner ve of this patient.