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Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies |
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| Authors: | Clemen Christoph S Fischer Dirk Roth Udo Simon Stéphanie Vicart Patrick Kato Kanefusa Kaminska Anna M Vorgerd Matthias Goldfarb Lev G Eymard Bruno Romero Norma B Goudeau Bertrand Eggermann Thomas Zerres Klaus Noegel Angelika A Schröder Rolf |
| Institution: | a Department of Neurology, Medical Faculty, University of Bonn, Sigmund Freud Str. 25, 53127 Bonn, FRG b Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, FRG c Center for Molecular Medicine Cologne, University of Cologne, Cologne, FRG d CNRS UMR 7000, Faculté de Médicine Pitié-Salpétrière, Paris, France e UFR de Biochemie, Université Paris 7, Paris, France f Department of Biochemistry, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan g Department of Neurology, Medical University of Warsaw, Warsaw, Poland h Neuromuscular Unit, Medical Research Center, Polish Academy of Sciences, Warsaw, Poland i Department of Neurology, Ruhr-University of Bochum, Bochum, Germany j Clinical Neurogenetics Unit, National Institute of Neurological Disorders and Stroke, National Institute of Health, Bethesda, Maryland, USA k Institut de Myologie and Unite Inserm 582, Groupe Hospitalier Pitie-Salpetriere, Paris, France l Laboratoire Cytosquelette et Développement, UMR CNRS 7000, Faculté de Médecine Pitié-Salpétrière, Paris, France m Institute of Human Genetics, RWTH Aachen, Aachen, FRG |
| Abstract: | Small heat shock proteins prevent abnormal protein folding and accumulation. We analyzed the expression of hsp27 and αB-crystallin in skeletal muscle specimens of patients with desminopathies, plectinopathies, myotilinopathy, and other myofibrillar myopathies by means of differential centrifugation, 2D-gel electrophoresis, Western blotting, and mass spectrometry. Hsp27-P82 and -P15 as well as αB-crystallin-P59 and -P45 are the major serine phosphorylation isoforms in normal and diseased human skeletal muscle. 2D-gel-electrophoresis revealed spots of hsp27 in a range of pH 5.3-6.4 in samples of all skeletal muscle specimens, except for the seven desminopathies. They indicated a shift of the main hsp27-spot to alkaline pH degrees, which may help to differentiate primary desminopathies from other myopathies with structural pathology of the desmin cytoskeleton. |
| Keywords: | hsp27 αB-crystallin Desmin Plectin Myofibrillar myopathies 2D-gel electrophoresis MALDI |
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