Publication:

GNE protein expression and subcellular distribution are unaltered in HIBM (2007)

Author(s): Krause S; Aleo A; Hinderlich S; Merlini L; Tournev I; Walter MC; Argov Z; Mitrani-Rosenbaum S; Lochmuller H

    Abstract: Mutations in GNE encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) cause hereditary inclusion body myopathy (HIBM). To define the role of GNE mutations in HIBM pathogenesis, GNE protein expression was analyzed. GNE protein is expressed at equal levels in HIBM patients and normal control subjects. Immunofluorescence detection of GNE did not reveal any mislocalization of GNE in skeletal muscle. We conclude that impaired GNE function, not lack of expression, may be the key pathogenic factor in HIBM. For diagnostic purposes, direct genetic analysis of the GNE gene in patients with IBM will remain the mainstay and is not aided by immunohistochemistry or immunoblotting using antibodies against the GNE protein.

      • Date: 14-08-2007
      • Journal: Neurology
      • Volume: 69
      • Issue: 7
      • Pages: 655-9
      • Publisher: Lippincott Williams & Wilkins
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: Adult Carbohydrate Epimerases/biosynthesis/genetics Cell Line Female Gene Expression Regulation, Enzymologic Humans Male Multienzyme Complexes/ biosynthesis/ genetics Mutation Myositis, Inclusion Body/ enzymology/ genetics Phosphotransferases (Alcohol Group Acceptor)/biosynthesis/genetics Subcellular Fractions/enzymology

      Staff

      Professor Hanns Lochmuller
      Professor of Experimental Myology