title: A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteins.
abstract: Hereditary inclusion body myopathy and distal myopathy with rimmed vacuoles are both caused by mutations of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. Here we report a Japanese patient with compound heterozygous missense mutations in the epimerase domain of GNE gene, 89 G to C and 578 A to T. Biochemical analysis demonstrated decreased reactivity of skeletal muscle glycoproteins with the lectins recognizing sialic acid residues. The results suggest that hyposialylation of glycoproteins may be involved in the pathogenesis of muscle dysfunction in this patient.
authors.affiliation: Department of Neurology and Neuroscience, Teikyo University School of Medicine, Tokyo 173-8605, Japan.
authors.forename: F
authors.initials: F
authors.lastname: Saito
authors.forename: H
authors.initials: H
authors.lastname: Tomimitsu
authors.forename: K
authors.initials: K
authors.lastname: Arai
authors.forename: S
authors.initials: S
authors.lastname: Nakai
authors.forename: T
authors.initials: T
authors.lastname: Kanda
authors.forename: T
authors.initials: T
authors.lastname: Shimizu
authors.forename: H
authors.initials: H
authors.lastname: Mizusawa
authors.forename: K
authors.initials: K
authors.lastname: Matsumura
mesh_terms: D000328:Adult; D002238:Carbohydrate Epimerases / Q000172:deficiency / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000378:metabolism; D049030:Dystroglycans; D006023:Glycoproteins / Q000378:metabolism; D006801:Humans; D007150:Immunohistochemistry; D007564:Japan; D008297:Male; D008562:Membrane Glycoproteins / Q000378:metabolism; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000473:pathology; D009124:Muscle Proteins / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D020125:Mutation, Missense / Q000235:genetics*; D019158:N-Acetylneuraminic Acid / Q000378:metabolism; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000172:deficiency / Q000235:genetics*; D017434:Protein Structure, Tertiary / Q000235:genetics; D014617:Vacuoles / Q000473:pathology
chemical_list: D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D006023:Glycoproteins; D008562:Membrane Glycoproteins; D009124:Muscle Proteins; D049030:Dystroglycans; D017853:Phosphotransferases (Alcohol Group Acceptor); C018765:N-acylmannosamine kinase; D002238:Carbohydrate Epimerases; C024519:N-acyl-D-glucosamine 2-epimerase; C498259:RENBP protein, human; D019158:N-Acetylneuraminic Acid