DYSTROPHIN AND DYSTROPHIN-RELATED PROTEIN IN THE CENTRAL-NERVOUS-SYSTEM OF NORMAL CONTROLS AND DUCHENNE MUSCULAR-DYSTROPHY

To clarify the localization and characterization of dystrophin and dys trophin-related protein (DRP) in the human central nervous system (CNS ), we carried out immunoblotting and immunostaining studies using thre e region-specific anti-dystrophin and one anti-DRP antibodies. With im munostaining, punctate immuno-reactivity of dystrophin was seen along the cell bodies and dendrites of the cerebral cortical neurons and cer ebellar Purkinje cells in the normal controls autopsied. By contrast, dystrophin was not detected at all in the CNS of Duchenne muscular dys trophy (DMD) patients with intellectual disturbance. Immunoreactivity of DRP was observed in the vascular walls of both normal and DMD brain s, but not in the neuronal cells. Compensatory increase of DRP was not noted in DMD brains. This study suggests that in DMD the brain-type d ystrophin originally present in neurons is absent and may be related t o the intellectual disturbance.