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Figure 4 | BMC Medical Genetics

Figure 4

From: Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies

Figure 4

Immunohistochemical analysis and electron microscopy on fibroblasts. Reduced amount of collagen VI microfilamentous network was detected in the extracellular matrix secreted by fibroblasts of BM Patient 1 (A) as compared to control fibroblasts (B). The microfibrillar network in the patient's fibroblasts showed an altered organization, characterized by a coarser texture than normal (A, Arrows) Fibroblast density was monitored by DAPI staining of the nuclei. Bar, 20 μm. Electron microscope examination of rotary-shadowed cultured fibroblasts from control (C) and BM Patient 1 (D-E), labeled with anti-collagen VI and revealed with a secondary antibody conjugated with 5-nm colloidal gold particles. Ultra-structural analysis of the rotary-shadowed fibroblasts revealed the presence of collagen VI fibrils constituted by several parallel running microfilaments in BM Patient 1 (D, E), while regular webs of interconnected microfilaments, like those shown in control fibroblasts (C), were absent. Bar, 200 nm.

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