Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes.
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.
Kawahara
Genri
G
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, Japan.
Ogawa
Megumu
M
Okada
Mari
M
Malicdan
May Christine V
MC
Goto
Yu-Ichi
Y
Hayashi
Yukiko K
YK
Noguchi
Satoru
S
Nishino
Ichizo
I
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
D024142:Collagen Type VI