Western blotting を用いたIII型コラーゲン分泌減少の検出 : その vascular Ehlers-Danlos syndrome のスクリーニングにおける有用性

概要

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Prognosis of vascular Ehlers-Danlos syndrome (EDS) is very poor because of rupture of arteries, the intestine or uterus. Early diagnosis is desirable but it is difficult to diagnose as skin hyperextensibility and joint hypermobility are generally mild. For a definitive diagnosis, detection of reduced secretion of type III collagen or identification of COL3A1 mutations by DNA sequencing needs to be performed. Although reduced type III collagen secretion has been detected by autofluorography using radioisotopes such as 3H-proline, radioactive waste is produced and it is a time- and cost-consuming method. Here, we have established a new method for screening vascular EDS patients utilizing Western blotting. Fibroblasts were cultured from biopsied skin samples of 23 patients who had suspected vascular or classical EDS from their clinical manifestations. Type III collagen secretion in conditioned medium was reduced in 14 of 23 patients (60.9%). When vascular EDS is suspected clinically, Western blotting to assess type III collagen secretion should be considered as a first-line screening method, because it is quicker and less expensive than autofluorography or DNA sequencing.
千葉医学会の論文
2007-12-01