GNE gene, which encodes the GNE enzyme which is involved in the synthesis of sialic acid.
Researchers compared the sialylation of glycoproteins and glycolipids in cell cultures from 3 patients with GNE myopathy and 3 control subjects. While there are many differences from one individual to another, they did not identify a typical sialylation profile either in the control subjects or in patients with GNE myopathies.
Studies on the role of sialylation in the pathophysiology of GNE myopathy are contradictory: some studies have shown hyposialylation in muscles in GNE myopathy, other studies have not.
