Kim, J;
Jimenez-Mallebrera, C;
Foley, AR;
Fernandez-Fuente, M;
Brown, SC;
Torelli, S;
Feng, L;
... Muntoni, F; + view all
(2012)
Flow cytometry analysis: a quantitative method for collagen VI deficiency screening.
Neuromuscular Disorders
, 22
(2)
139 - 148.
10.1016/j.nmd.2011.08.006.
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Abstract
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.
| Type: | Article |
|---|---|
| Title: | Flow cytometry analysis: a quantitative method for collagen VI deficiency screening. |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.nmd.2011.08.006 |
| Publisher version: | http://dx.doi.org/10.1016/j.nmd.2011.08.006 |
| Language: | English |
| Additional information: | This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. PMCID: PMC3657173 |
| Keywords: | Adolescent, Adult, Child, Collagen Type VI, Fibroblasts, Flow Cytometry, Humans, Middle Aged, Muscular Dystrophies, Mutation, Young Adult |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1331694 |
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