Department of Biomolecular Medicine, Ghent University, Ghent, Belgium; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Department of Biomolecular Medicine, Ghent University, Ghent, Belgium; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Trends Mol Med. 2024 Sep;30(9):824-843. doi: 10.1016/j.molmed.2024.06.001. Epub 2024 Aug 14.
The Ehlers-Danlos syndromes (EDS) are a group of rare heritable connective tissue disorders, common hallmarks of which are skin hyperextensibility, joint hypermobility, and generalized connective tissue fragility. Currently, 13 EDS types are recognized, caused by defects in 20 genes which consequently alter biosynthesis, organization, and/or supramolecular assembly of collagen fibrils in the extracellular matrix (ECM). Molecular analyses on patient samples (mostly dermal fibroblast cultures), combined with studies on animal models, have highlighted that part of EDS pathogenesis can be attributed to impaired cellular dynamics. Although our understanding of the full extent of (extra)cellular consequences is still limited, this narrative review aims to provide a comprehensive overview of our current knowledge on the extracellular, pericellular, and intracellular alterations implicated in EDS pathogenesis.
埃勒斯-当洛斯综合征（EDS）是一组罕见的遗传性结缔组织疾病，其常见特征为皮肤过度伸展、关节过度活动和广泛的结缔组织脆弱。目前已识别出 13 种 EDS 类型，由 20 个基因的缺陷引起，这些缺陷导致细胞外基质（ECM）中胶原纤维的生物合成、组织和/或超分子组装发生改变。对患者样本（主要是真皮成纤维细胞培养物）的分子分析，结合动物模型研究，突出表明 EDS 发病机制的一部分可归因于细胞动力学受损。尽管我们对（细胞外）细胞后果的全面认识仍然有限，但本综述旨在全面概述我们目前对 EDS 发病机制中涉及的细胞外、细胞周和细胞内改变的认识。
