GNE antibodies target the enzyme glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE), a bifunctional protein critical for sialic acid biosynthesis. Sialic acids are essential sugars involved in cell-cell interactions, immune response modulation, and pathogen recognition. GNE catalyzes the first two steps in sialic acid production: the epimerization of UDP-N-acetylglucosamine to N-acetylmannosamine (ManNAc) and its subsequent phosphorylation.
Mutations in the GNE gene are linked to hereditary inclusion body myopathy (HIBM), also known as GNE myopathy, a rare autosomal recessive disorder characterized by progressive muscle weakness. Research on GNE antibodies focuses on understanding these mutations’ effects on enzyme activity, protein stability, and cellular localization. These antibodies are vital tools in Western blotting, immunohistochemistry, and immunofluorescence to study GNE expression patterns in tissues, particularly skeletal muscle, and to explore therapeutic strategies like substrate supplementation or gene therapy.
Additionally, GNE antibodies aid in investigating sialylation defects in other conditions, such as cancer and immune disorders, where altered sialic acid levels influence metastasis or immune evasion. Their development and validation remain crucial for advancing diagnostics and targeted treatments for GNE-related pathologies.