LOCALIZATION AND CHARACTERIZATION OF DYSTROPHIN IN THE CENTRAL-NERVOUS-SYSTEM OF CONTROLS AND PATIENTS WITH DUCHENNE MUSCULAR-DYSTROPHY

The aim was to localise and characterise dystrophin in-various human t issues, especially in the CNS. Immunoblotting and immunostaining studi es were carried out with eight region-specific dystrophin antibodies. In necropsy tissue from controls, dystrophin was noted as a doublet in immunoblots of striated muscle, and as a single band in those of smoo th muscle and the CNS. With immunostaining, punctate immunoreactivity was seen on the cell bodies and dendrites of the cerebral cortical neu rons and cerebellar Purkinje cells. By contrast, dystrophin was not de tected in any tissues, including the cerebrum and cerebellum, of patie nts with Duchenne muscular dystrophy who had an intellectual disturban ce.