Dystrophin抗体;Dystrophin Antibody—艾普蒂 新品

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     Western blot analysis of Dystrophin expression in human fetal heart lysate.    

  
  

Dystrophin antibodies are essential tools in studying the structure, function, and pathology of dystrophin, a critical cytoskeletal protein that stabilizes muscle cell membranes during contraction. Dystrophin is encoded by the *DMD* gene, and mutations in this gene lead to Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD), characterized by progressive muscle degeneration and weakness. The protein anchors the actin cytoskeleton to the extracellular matrix via the dystrophin-associated glycoprotein complex (DGC), ensuring mechanical stability and signaling in muscle fibers.

Antibodies targeting dystrophin are widely used in research and diagnostics to assess protein expression, localization, and integrity. In DMD/BMD, dystrophin is typically absent (DMD) or truncated (BMD), and immunohistochemistry (IHC) or immunofluorescence (IF) with specific antibodies helps confirm diagnosis. Western blotting quantifies dystrophin levels, differentiating severe DMD from milder BMD cases. These antibodies also aid in evaluating experimental therapies, such as exon-skipping drugs or gene editing, by detecting restored or modified dystrophin in preclinical models (e.g., mdx mice) or patient samples.

Multiple dystrophin isoforms exist due to alternative splicing, and antibodies targeting different epitopes (e.g., N-terminal, rod domain, C-terminal) help distinguish isoforms or detect specific mutations. Commercially available monoclonal and polyclonal antibodies vary in specificity, requiring validation for each application. Beyond diagnostics, they contribute to understanding dystrophin's role in muscle repair, membrane stability, and interactions with other DGC components, offering insights into broader neuromuscular pathophysiology.