title: Carbohydrate composition of erythrocyte membranes and glycosidase activities in serum in patients with myotonic dystrophy, limb-girdle dystrophy and congenital myotonia.
abstract: A number of abnormalities in cell membrane function, including cells other than muscle cells, have been described in patients with inherited muscular diseases such as myotonic dystrophy and congenital myotonia. The basic molecular defects are, however, still unknown. The complex carbohydrates of membrane-bound glycoconjugates are of vital importance for the normal performance of the cell membrane. In this study the concentrations of the three major carbohydrates (sialic acid, galactose and hexosamines) of the erythrocyte membrane were therefore determined in patients with myotonic dystrophy, limb-girdle dystrophy and congenital myotonia. The activities of relevant glycosidases in serum were also assayed. In each of the three diseases pertinent changes of the carbohydrate pattern were found. In patients with myotonic dystrophy the sialic acid and in patients with limb-girdle dystrophy the hexosamine concentration was significantly reduced (P less than 0.0005). The sialic acid, galactose and hexosamine concentrations were all significantly increased in patients with congenital myotonia. No increase of the neuraminidase (sialidase) activity was found in sera from patients with myotonic dystrophy. In patients with limb-girdle dystrophy, the activities of serum hexosaminidases were normal. These results support the contention that certain inherited muscular diseases may represent generalized membrane disorders, and suggests that disturbances of membrane-bound glycoproteins and/or glycolipids might be of importance in the pathogenesis of some of these disorders.
mesh_terms: D000118:Acetylglucosaminidase / Q000097:blood; D000293:Adolescent; D000328:Adult; D002241:Carbohydrates / Q000097:blood*; D002648:Child; D004910:Erythrocyte Membrane / Q000201:enzymology*; D005260:Female; D005693:Galactosemias / Q000201:enzymology; D006026:Glycoside Hydrolases / Q000097:blood*; D006595:Hexosamines / Q000097:blood; D006596:Hexosaminidases / Q000097:blood; D006801:Humans; D007700:Kinetics; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000201:enzymology*; D009224:Myotonia Congenita / Q000201:enzymology*; D019158:N-Acetylneuraminic Acid; D009439:Neuraminidase / Q000097:blood; D012794:Sialic Acids / Q000097:blood; D048828:beta-N-Acetyl-Galactosaminidase
chemical_list: D002241:Carbohydrates; D006595:Hexosamines; D012794:Sialic Acids; D006026:Glycoside Hydrolases; D006596:Hexosaminidases; D009439:Neuraminidase; D000118:Acetylglucosaminidase; D048828:beta-N-Acetyl-Galactosaminidase; D019158:N-Acetylneuraminic Acid