GNE Myopathy (GNEM) is a rare disease caused by a mutation in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene, which catalyzes sialic acid synthesis. GNEM results in decreased sialic acid and loss of strength in the muscles due to an unclear mechanism. Currently, there is no available treatment for GNEM. However, gene therapy approaches involving delivering a corrected copy of the GNE gene into GNEM patient muscle are currently being developed. A robust biomarker is needed to assess the efficacy of such a therapy. Here, we assess the ability of a panel of lectins, which are glycan-binding proteins, to reflect changes in sialic acid levels in vitro that occur when sialic acid is enzymatically removed via sialidase or when its production is impaired due to mutations in the GNE gene. This work probes the ability of these lectins to reflect changes in sialic acid levels, which can inform biomarker development for GNE myopathy therapies.
This work was supported by a grant from the Neuromuscular Disease Foundation (NDF).
