The sialic acid and galactose concentrations in erythrocyte membranes in patients with myotonic dystrophy, limb-girdle and facioscapulohumeral dystrophy.

Sialic acid is an important constituent of membrane-bound glycoproteins and glycolipids. It occurs linked to galactose at the surface of the membrane and is involved in, e.g., cation exchange, receptor function, maintenance of membrane polarity and intercellular interactions. In myotonic dystrophy there is evidence of an as yet basically undefined plasma-membrane abnormality. Considering the importance of sialic acid in membrane function, sialic acid as well as galactose concentrations were measured in erythrocyte membranes from 17 patients with myotonic dystrophy and compared to 17 matched healthy controls. There was a highly significant (P less than 0.0005) reduction of the sialic acid concentration in the patients, while no significant difference in galactose concentration was found. In 16 patients with limb-girdle and facioscapulohumeral dystrophy, sialic acid and galactose concentrations did not differ from matched controls. The possible importance of a reduced concentration of membrane-bound sialic acid in myotonic dystrophy is discussed in relation to previously reported biochemical membrane abnormalities in this disease.