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Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes
Author(s) -
Kawahara Genri,
Ogawa Megumu,
Okada Mari,
Malicdan May Christine V.,
Goto YuIchi,
Hayashi Yukiko K.,
Noguchi Satoru,
Nishino Ichizo
Publication year - 2008
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21030
Subject(s) - sarcolemma , extracellular matrix , collagen vi , myocyte , dysferlin , extracellular , mutation , muscular dystrophy , microbiology and biotechnology , congenital muscular dystrophy , chemistry , matrix (chemical analysis) , biology , gene , endocrinology , genetics , medicine , chromatography
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. Muscle Nerve, 2008