Key result
Flow cytometry analysis quantitatively detected a reduction of collagen VI of at least 60% in all Ullrich congenital muscular dystrophy cases and an average of 20% in Bethlem myopathy cases.
Why the study?
Does flow cytometry analysis provide a quantitative method for screening collagen VI deficiency in primary fibroblasts compared to immunohistochemical analysis?
Case-Control (n=18)
Does flow cytometry analysis provide a quantitative method for screening collagen VI deficiency in primary fibroblasts compared to immunohistochemical analysis?
Flow cytometry provides a quantitative, time- and cost-effective alternative for screening collagen VI deficiency at the protein level.
Flow cytometry may enable quantitative collagen VI screening in fibroblasts; leaves open validation versus immunohistochemistry before clinical adoption.
Mutations in COL6A1, COL6A2 and COL6A3 genes result in collagen VI myopathies: Ullrich congenital muscular dystrophy (UCMD), Bethlem myopathy (BM) and intermediate phenotypes. At present, none of the existing diagnostic techniques for evaluating collagen VI expression is quantitative, and the detection of subtle changes in collagen VI expression remains challenging. We investigated flow cytometry analysis as a means of quantitatively measuring collagen VI in primary fibroblasts and compared this method with the standard method of fibroblast collagen VI immunohistochemical analysis. Eight UCMD and five BM molecularly confirmed patients were studied and compared to five controls. Flow cytometry analysis consistently detected a reduction of collagen VI of at least 60% in all UCMD cases. In BM cases the levels of collagen VI were variable but on average 20% less than controls. Flow cytometry analysis provides an alternative method for screening for collagen VI deficiency at the protein level in a quantitative, time and cost-effective manner.
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Kim et al. (2011) conducted a case-control in Collagen VI myopathies (n=18). Flow cytometry analysis vs. Immunohistochemical analysis / Controls was evaluated on Quantitative measurement of collagen VI in primary fibroblasts. Flow cytometry analysis quantitatively detected a reduction of collagen VI of at least 60% in all Ullrich congenital muscular dystrophy cases and an average of 20% in Bethlem myopathy cases.
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