Assessment of Lectin Staining Biomarkers using a Murine Model of GNE Myopathy

GNE myopathy (GNEM) is a rare myopathy caused by mutations in the UDP-GlcNAc epimerase/ManNAc-6 kinase (GNE) gene, which reduce sialic acid (SA) biosynthesis and impair muscle through unclear mechanisms. As development of SA-restoring GNEM gene therapies is underway, it is essential to develop SA-detecting biomarkers in preclinically-relevant murine tissues. Here, we assess skeletal muscle staining of the Gne ^M743T/M743T GNEM model with four sialylation-detecting lectins. While no tested lectins could effectively differentiate between Gne ^M743T/M743T and wild type tissues, Peanut Agglutinin (PNA) showed differential binding in tissues with and without SA-removing sialidase treatment, indicating its promise in detecting hyposialylation in murine tissues.