'Biochemical (protein-based) testing. Biochemical testing for vEDS requires cultured dermal fibroblasts. Proteins synthesized by these cells are biosynthetically labeled with radio-labeled proline, and assessed by sodium dodecyl-sulfate polyacrylamide gel electrophoresis (SDS-PAGE). The amount of type III procollagen synthesized, the quantity secreted into the medium, and the electrophoretic mobility of the constituent chains are assessed.
Analysis of type III procollagen synthesized by cultured cells can identify abnormalities in synthesis and mobility of type III collagen chains.
This testing is a valuable method used to determine if a unique sequence variant in COL3A1results in protein alterations and to evaluate the outcome of splice site variants. In rare instances biochemical analysis may identify very small insertions or deletions – and perhaps inversions – not identified by arrays.'
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References:
Bjerneld EJ, Johansson JD, Laurin Y, Hagner-McWhirter Å, Rönn O, Karlsson R2, Pre-labeling of diverse protein samples with a fixed amount of Cy5 for sodium dodecyl sulfate-polyacrylamide gel electrophoresis analysis.2015 Sep 1;484:51-7. doi: 10.1016/j.ab.2015.04.036. Available at: https://www.ncbi.nlm.nih.gov/pubmed/25957128. Accessed 18th November.
Biochemistry behind diagnosis
