The sarcoglycan complex (SGC) is a critical component of the dystrophin-glycoprotein complex (DGC) in muscle cell membranes, essential for maintaining membrane stability during contraction. SGCA (α-sarcoglycan), encoded by the SGCA gene, is one of four transmembrane glycoproteins (α, β, γ, δ) in this complex. Mutations in SGCA are linked to limb-girdle muscular dystrophy type 2D (LGMD2D), a recessive disorder characterized by progressive muscle weakness and wasting. SGCA deficiency disrupts the entire sarcoglycan complex, compromising membrane integrity, leading to myofiber damage, and triggering inflammation and fibrosis.
SGCA antibodies are vital tools in research and diagnostics. They detect SGCA protein expression via techniques like Western blot, immunohistochemistry, or immunofluorescence, aiding in confirming LGMD2D diagnoses when genetic testing is inconclusive. These antibodies help assess sarcoglycan complex stability in muscle biopsies, distinguishing primary SGCA deficiencies from secondary reductions caused by mutations in other sarcoglycans or DGC components. Additionally, they are used in preclinical studies to evaluate gene therapy efficacy or protein replacement strategies aiming to restore SGCA function. Commercially available SGCA antibodies are typically monoclonal or polyclonal, targeting specific epitopes to ensure specificity. Their application enhances understanding of disease mechanisms and supports therapeutic development for sarcoglycanopathies.