the proteomic profile of hereditary inclusion body myopathy遗传性包涵体肌病的蛋白质组学概要文件.pdfVIP

The Proteomic Profile of Hereditary Inclusion Body Myopathy 1 1 2 3 3 4 Ilan Sela , Irit Milman Krentsis , Zipora Shlomai , Menachem Sadeh , Ron Dabby , Zohar Argov , 2 1 Hannah Ben-Bassat , Stella Mitrani-Rosenbaum * 1 Goldyne Savad Institute for Gene Therapy, Hadassah Hebrew University Medical Center, Jerusalem, Israel, 2 Laboratory of Experimental Surgery, Hadassah Hebrew University Medical Center, Jerusalem, Israel, 3 Department of Neurology, Wolfson Medical Center, Holon, Israel, 4 Department of Neurology, Hadassah Hebrew University Medical Center, Jerusalem, Israel Abstract Hereditary inclusion body myopathy (HIBM) is an adult onset, slowly progressive distal and proximal myopathy. Although the causing gene, GNE, encodes for a key enzyme in the biosynthesis of sialic acid, its primary function in HIBM remains unknown. The goal of this study was to unravel new clues on the biological pathways leading to HIBM by proteomic comparison. Muscle cultures and biopsies were analyzed by two dimensional gel electrophoresis (2-DE) and the same biopsy extracts by isobaric tag for relative and absolute quantitation (iTRAQ). Proteins that were differentially expressed in all HIBM specimens versus all controls in each analysis were identified by mass spectro- metry. The muscle cultures 2-DE analysis yielded 41 such proteins, while the biopsies 2-DE analysis showed 26 differentially expressed proteins. Out of the 400 proteins identified