Laboratory of Molecular and Cell Biology, IDI-IRCCS, Rome, Italy.
Department of Dermatology, Medical Center - University of Freiburg, Medical Faculty, University of Freiburg, Germany.
Matrix Biol. 2019 Aug;81:3-16. doi: 10.1016/j.matbio.2018.12.001. Epub 2018 Dec 5.
Loss-of-function mutations in the gene encoding type VII collagen underlie recessive dystrophic epidermolysis bullosa (RDEB), a disease characterized by skin and mucosal blistering, impaired wound healing, and diffuse dermal inflammation and fibrosis. Transforming growth factor-β signaling plays a crucial role in determining RDEB fibrotic microenvironment that leads to the development of disabling secondary disease manifestations, including hand and foot deformities. Experimental findings indicate that expression levels of decorin, a small leucine-rich proteoglycan and an endogenous TGF-β inhibitor, can modulate RDEB disease phenotype by contrasting dermal fibroblast fibrotic behavior. In this study, the ability of decorin to modify RDEB course was investigated by systemically treating RDEB mice with a lentivirus expressing human decorin. Overexpressed decorin was able to enhance survival, and to limit digit contraction and the development of paw deformities. These effects were associated with decreased TGF-β1 levels and TGF-β signaling activation. Fibrotic traits were strongly reduced in paw skin and also attenuated in the non-chronically injured back skin. However, the expression of pro-inflammatory proteins was not decreased in both paw and back skin. Our findings confirm TGF-β role in promoting fibrosis and disease progression in RDEB, and show that decorin counteracts disease manifestations by inhibiting TGF-β activation. More generally, our data indicate that modifying extracellular matrix composition is an option to improve RDEB disease course.
VII 型胶原基因突变导致隐性营养不良型大疱性表皮松解症(RDEB),其特征为皮肤和黏膜水疱、伤口愈合不良、弥漫性皮肤炎症和纤维化。转化生长因子-β信号通路在决定 RDEB 纤维化微环境中起着至关重要的作用,导致包括手足畸形在内的致残性继发性疾病表现的发展。实验结果表明,核心蛋白聚糖(一种小的富含亮氨酸的蛋白聚糖和内源性 TGF-β 抑制剂)的表达水平可以通过改变真皮成纤维细胞的纤维化行为来调节 RDEB 疾病表型。在这项研究中,通过系统地用表达人核心蛋白聚糖的慢病毒处理 RDEB 小鼠来研究核心蛋白聚糖修饰 RDEB 病程的能力。过表达的核心蛋白聚糖能够提高生存率,并限制指节收缩和爪畸形的发展。这些效果与 TGF-β1 水平降低和 TGF-β 信号激活减少有关。爪皮肤中的纤维化特征明显减少,非慢性损伤背部皮肤中的纤维化特征也减弱。然而,在爪部和背部皮肤中,促炎蛋白的表达均未降低。我们的研究结果证实了 TGF-β 在 RDEB 中促进纤维化和疾病进展的作用,并表明核心蛋白聚糖通过抑制 TGF-β 激活来对抗疾病表现。更广泛地说,我们的数据表明,改变细胞外基质组成是改善 RDEB 病程的一种选择。