Abstract

We studied expression of collagenase gene and stromelysin gene in skin fibroblasts derived from patients with recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). Northern blot analyses revealed that collagenase gene expression was markedly increased in two of four RDEB cells, as compared with three normal control cells. Moreover, stromelysin gene expression was also markedly increased in two RDEB cells, as compared with normal controls. In contrast, collagenase and stromelysin gene expression levels in three DDEB cells did not show any significant difference from those of normal controls, except one cell line which showed mild increase of both collagenase and stromelysin mRNA. Quantitative estimates of collagenase mRNA (U/μg RNA) determined by slot blot hybridizations showed that those of RDEBs: 0.92–1.81 (mean 1.3 ± 0.45); DDEBs: 0.18–0.73 (mean 0.60 ± 0.37); normal controls: 0.26–0.93 (mean 0.64 ± 0.34). Stromelysin mRNA levels showed that those of RDEBs: 1.75–6.62 (mean 4.06 ± 2.00); DDEBs: 0.55–3.78 (mean 1.69 ± 1.81); normal controls: 1.27–2.08 (mean; 1.55 ± 0.45). These data demonstrated that collagenase and stromelysin gene expression was increased in some, but not all, RDEB cell lines. Our data suggested that collagenase and/or stromelysin could play a certain role for blister formation in RDEB, coordinately or in a distinct manner.

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