title: Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency.
abstract: NG2, the rat homologue of the human melanoma chondroitin sulfate proteoglycan (MCSP), is a ligand for collagen VI (COL6). We have examined skeletal muscles of patients affected by Ullrich scleroatonic muscular dystrophy (UCMD), an inherited syndrome caused by COL6 genes mutations. A significant decrease of NG2 immunolabeling was found in UCMD myofibers, as well as in skeletal muscle and cornea of COL6 null-mice. In UCMD muscles, truncated NG2 core protein isoforms were detected. However, real-time RT-PCR analysis revealed marked increase in NG2 mRNA content in UCMD muscle compared to controls. We hypothesize that NG2 immunohistochemical and biochemical behavior may be compromised owing to the absence of its physiological ligand. MCSP/NG2 proteoglycan may be considered an important receptor mediating COL6-sarcolemma interactions, a relationship that is disrupted by the pathogenesis of UCMD muscle.
authors.affiliation: Unit of Molecular Medicine, Bambino Gesù Hospital IRCCS, P.zza S. Onofrio 4, 00165 Rome, Italy. petrini.s@tiscalinet.it
authors.forename: Stefania
authors.initials: S
authors.lastname: Petrini
authors.forename: Alessandra
authors.initials: A
authors.lastname: Tessa
authors.forename: William B
authors.initials: WB
authors.lastname: Stallcup
authors.forename: Patrizia
authors.initials: P
authors.lastname: Sabatelli
authors.forename: Mario
authors.initials: M
authors.lastname: Pescatori
authors.forename: Betti
authors.initials: B
authors.lastname: Giusti
authors.forename: Rosalba
authors.initials: R
authors.lastname: Carrozzo
authors.forename: Margherita
authors.initials: M
authors.lastname: Verardo
authors.forename: Natascha
authors.initials: N
authors.lastname: Bergamin
authors.forename: Marta
authors.initials: M
authors.lastname: Columbaro
authors.forename: Camilla
authors.initials: C
authors.lastname: Bernardini
authors.forename: Luciano
authors.initials: L
authors.lastname: Merlini
authors.forename: Guglielmina
authors.initials: G
authors.lastname: Pepe
authors.forename: Paolo
authors.initials: P
authors.lastname: Bonaldo
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
mesh_terms: D000818:Animals; D000941:Antigens / Q000235:genetics / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D024142:Collagen Type VI / Q000172:deficiency* / Q000235:genetics; D003315:Cornea / Q000378:metabolism / Q000503:physiopathology; D005260:Female; D015870:Gene Expression / Q000235:genetics; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D051379:Mice; D018345:Mice, Knockout; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000473:pathology; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D020033:Protein Isoforms / Q000235:genetics / Q000378:metabolism; D011509:Proteoglycans / Q000235:genetics / Q000378:metabolism*; D012333:RNA, Messenger / Q000378:metabolism; D012508:Sarcolemma / Q000378:metabolism / Q000473:pathology; D012867:Skin / Q000378:metabolism / Q000503:physiopathology; D000099216:Chondroitin Sulfate Proteoglycan 4
chemical_list: D000941:Antigens; D024142:Collagen Type VI; D020033:Protein Isoforms; D011509:Proteoglycans; D012333:RNA, Messenger; D000099216:Chondroitin Sulfate Proteoglycan 4