DYSF抗体;DYSF Antibody—艾普蒂 新品

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     The image is immunohistochemistry of paraffin-embedded Human brain tissue using P12517(DYSF Antibody) at dilution 1/25. (Original magnification: ×200)    

  
  

Dysferlin (DYSF) is a calcium-regulated transmembrane protein predominantly expressed in skeletal muscle and involved in membrane repair, vesicle trafficking, and myogenesis. Mutations in the DYSF gene are linked to rare autosomal recessive muscular dystrophies, including limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy. These disorders are characterized by progressive muscle weakness, elevated serum creatine kinase levels, and histopathological features like inflammatory infiltrates and necrotic fibers. Dysferlin deficiency disrupts sarcolemmal repair mechanisms, leading to chronic muscle damage.

DYSF antibodies are essential tools for studying dysferlin's role in muscle biology and disease pathogenesis. They are widely used in diagnostic immunohistochemistry (IHC) and Western blot analyses to confirm dysferlin deficiency in patient biopsies, differentiating LGMD2B from other muscular dystrophies with overlapping clinical features. Commercially available monoclonal and polyclonal antibodies target specific epitopes of the dysferlin protein, enabling researchers to investigate its expression patterns, subcellular localization, and interactions with partners like caveolin-3 or annexins. Recent studies also explore the therapeutic potential of antibody-mediated strategies, such as exon-skipping or gene therapy validation. However, variability in antibody specificity and cross-reactivity with homologous proteins (e.g., myoferlin) necessitates careful validation in experimental models. Ongoing research aims to refine antibody-based diagnostics and develop targeted therapies for dysferlinopathies.