DISTRIBUTION OF DYSTROPHIN AND DYSTROPHIN-ASSOCIATED PROTEIN 43DAG (BETA-DYSTROGLYCAN) IN THE CENTRAL-NERVOUS-SYSTEM OF NORMAL CONTROLS ANDPATIENTS WITH DUCHENNE MUSCULAR-DYSTROPHY

In skeletal muscles of patients with Duchenne muscular dystrophy (DMD) , the absence of dystrophin was thought to lead to the large reduction in all of the dystrophin-associated proteins (DAPs). Of the seven typ es of DAPs identified in skeletal muscle, only the 43-kDa glycoprotein (beta-dystroglycan) has recently been found in the monkey brain. To c larify the distribution and characterization of dystrophin and beta-dy stroglycan in the brain of humans, we carried out immunostaining and i mmunoblotting studies on tissues from three DMD patients with intellec tual disturbances (ages 17, 22, and 26 year) and in five controls (age range, 42-74 year). An antidystrophin antibody revealed dystrophin to be localized in neuronal cells and in the vascular wall in control br ains, but it was absent from these tissues in DMD patients. In contras t, beta-dystroglycan was distributed throughout neuronal cells and in the vascular wall of control brains, and was well preserved in the bra in of patients with DMD.