Immunohistochemical staining of dystrophin on formalin-fixed paraffin-embedded sections in Duchenne/Becker muscular dystrophy and manifesting carriers of Duchenne muscular dystrophy.

We succeeded in immunostaining of monoclonal anti-dystrophin antibodies on formalin-fixed and paraffin-embedded muscle sections from patients with Duchenne muscular dystrophy, patients with Becker muscular dystrophy, and manifesting carriers of Duchenne muscular dystrophy using Catalyzed Signal Amplification(TM) system. The Catalyzed Signal Amplification system is an extremely sensitive immunohistochemistry staining procedure based on the peroxidase-catalyzed deposition of a biotinylated phenolic compound. We used three mouse monoclonal antibodies: DYS1, DYS2, and DYS3. Muscle sections were treated using the Target Retrieval Solution(TM) and the Catalyzed Signal Amplification system. In control patients, DYS1 and DYS2 were stained at the sarcolemma, but DYS3 remained unstained. In Duchenne muscular dystrophy patients, DYS1 and DYS2 staining were undetected. In Becker muscular dystrophy patients, the immunolabeling of DYSI and DYS2 were weak and discontinuous. In manifesting carriers of Duchenne muscular dystrophy, DYS1 and DYS2 staining showed a mosaic pattern of dystrophin-positive fibers and dystrophin-negative fibers. DYS1 and DYS2 staining patterns of this study are similar to those of frozen sections using conventional methods previously reported. In cases from whom frozen muscle sections cannot be obtained, immunohistochemical dystrophin analysis using the Catalyzed Signal Amplification system will be beneficial for the diagnosis and the screening of neuromuscular diseases.