title: Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes.
abstract: In Ullrich congenital muscular dystrophy, due to heterozygous mutations in COL6 genes, collagen VI is preserved in the interstitium but lost in the sarcolemma. We found that the binding ability of mutated collagen VI to extracellular matrix was markedly reduced compared to control. This indicates that heterozygous mutations in COL6 genes diminish the anchorage of collagen VI microfibrils to the extracellular matrix surrounding myocytes. This is the cause for sarcolemma-specific collagen VI deficiency.
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, Japan.
authors.forename: Genri
authors.initials: G
authors.lastname: Kawahara
authors.forename: Megumu
authors.initials: M
authors.lastname: Ogawa
authors.forename: Mari
authors.initials: M
authors.lastname: Okada
authors.forename: May Christine V
authors.initials: MC
authors.lastname: Malicdan
authors.forename: Yu-Ichi
authors.initials: Y
authors.lastname: Goto
authors.forename: Yukiko K
authors.initials: YK
authors.lastname: Hayashi
authors.forename: Satoru
authors.initials: S
authors.lastname: Noguchi
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
mesh_terms: D002478:Cells, Cultured; D024142:Collagen Type VI / Q000235:genetics* / Q000378:metabolism*; D005109:Extracellular Matrix / Q000378:metabolism*; D006801:Humans; D032342:Muscle Cells / Q000473:pathology*; D009136:Muscular Dystrophies / Q000235:genetics / Q000473:pathology*; D009154:Mutation; D011485:Protein Binding / Q000502:physiology
chemical_list: D024142:Collagen Type VI