title: [Oligosaccharide abnormalities and expansion of the CTG repeat of MT-PK gene in patients with myotonic dystrophy].
abstract: Myotonic dystrophy is a hereditary disorder with multisystem abnormalities associated with expansion of the CTG repeat within the 3' non-coding region of the myotonin protein kinase. CTG repeat length has been shown to correlate with the clinical symptoms and age at onset of the disease. Plasma membrane has been considered to be one of the affected organ in MyD. The oligosaccharide abnormalities of the erythrocyte membrane, skeletal muscle membrane as well as immunoglobulin G were detected in patients with MyD. The characteristic oligosaccharide moiety of these membranes and proteins was a decrease of galactose contents and an increase of exposed N-acetylglucosamine at the non-reducing end of oligosaccharides. The degree of oligosaccharide abnormalities of the skeletal muscle from MyD patients was correlated well with the CTG expansion of MT-PK.
authors.affiliation: Second Department of Internal Medicine, Fukui Medical University.
authors.forename: K
authors.initials: K
authors.lastname: Ito
authors.forename: A
authors.initials: A
authors.lastname: Takano
mesh_terms: D000117:Acetylglucosamine / Q000032:analysis; D004910:Erythrocyte Membrane / Q000378:metabolism; D005690:Galactose / Q000032:analysis; D006801:Humans; D007074:Immunoglobulin G / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism; D009223:Myotonic Dystrophy / Q000209:etiology* / Q000378:metabolism; D065636:Myotonin-Protein Kinase; D009844:Oligosaccharides / Q000737:chemistry*; D011494:Protein Kinases / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases; D018911:Trinucleotide Repeats
chemical_list: C585517:DMPK protein, human; D007074:Immunoglobulin G; D009844:Oligosaccharides; D011494:Protein Kinases; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases; D000117:Acetylglucosamine; D005690:Galactose