Molecular basis of inherited skin-blistering disorders, and therapeutic implications
Molecular basis of inherited skin-blistering disorders, and therapeutic implications
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DOI：
10.1017/s1462399406000123
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发表时间：
2006-10-13
影响因子：
6.2
通讯作者：
Bruckner-Tuderman, Leena
中科院分区：
文献类型：
--
作者：
Aumailley, Monique;Has, Cristina;Bruckner-Tuderman, Leena
大疱性表皮松解症 (EB) 和相关的皮肤脆弱综合征是一组遗传性皮肤病，其特征是创伤引起的皮肤和粘膜起泡。编码表皮或真皮-表皮交界处 (DEJ) 分子成分的至少 14 个不同基因的突变可导致起泡性皮肤病，这些疾病的临床表现和症状严重程度各不相同。尽管在识别此类疾病的遗传基础方面取得了巨大进展，但导致症状的分子途径尚未完全了解。通过对所涉及的人类蛋白质的结构的分子分析和对功能特性的体外评估，结合低等生物体的遗传模型来解开这些途径，应该为遗传性皮肤脆弱性的具体治疗铺平道路。
Epidermolysis bullosa (EB) and associated skin-fragility syndromes are a group of inherited skin diseases characterised by trauma-induced blistering of the skin and mucous membranes. Mutations in at least 14 distinct genes encoding molecular components of the epidermis or the dermal-epidermal junction (DEJ) can cause blistering skin diseases that differ by clinical presentation and severity of the symptoms. Despite great advances in discerning the genetic basis of this group of diseases, the molecular pathways leading to symptoms are not yet fully understood. Unravelling these pathways by molecular analysis of the structure and in vitro assessment of functional properties of the human proteins involved, combined with genetic models in lower organisms, should pave the way for specific cures for inherited skin fragility.