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NEUROLOGY 2007;69:655-659
© 2007 American Academy of Neurology

GNE protein expression and subcellular distribution are unaltered in HIBM

S. Krause, MD, PhD, A. Aleo, MS, S. Hinderlich, PhD, L. Merlini, MD, I. Tournev, MD, PhD, M. C. Walter, MD, Z. Argov, MD, S. Mitrani-Rosenbaum, PhD and H. Lochmüller, MD

From the Friedrich Baur Institute and Department of Neurology (S.K., A.A., M.C.W., H.L.), Ludwig Maximilians University, Munich, and Charité-Universitätsmedizin Berlin (S.H.), Institut für Biochemie und Molekularbiologie, Berlin, Germany; Muscle Unit (L.M.), Division of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara, Italy; Department of Neurology (I.T.), Sofia Medical University, Bulgaria; and Department of Neurology (Z.A.), Hadassah University Hospital, and Goldyne–Savad Institute of Gene Therapy (S.M.-R.), Hadassah–Hebrew University Medical Center, Jerusalem, Israel.

Address correspondence and reprint requests to Dr. H. Lochmüller, Friedrich Baur Institute, Marchioninistr. 17, 81377 München, Germany Hanns.Lochmueller{at}med.uni-muenchen.de

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.

Supplemental data at www.neurology.org

Supported in part by grants from the Myositis Association (Washington, DC), Bayer-Vital (Leverkusen, Germany), and the Friedrich-Baur-Stiftung (Munich, Germany) to S.K. and H.L., from the Fritz-Thyssen-Stiftung, Köln, Germany, and the German-Israeli Foundation for Scientific Research and Development, Jerusalem, Israel, to S.H., Z.A., and S.M.-R.

Disclosure: The authors report no conflicts of interest.

Received August 11, 2006. Accepted in final form March 15, 2007.






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