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Abstract：
The extracellular matrix is a complex network of proteins and other molecules that are essential for the support, integrity, and structure of cells and tissues within the human body. The genes ZNF469 and PRDM5 each produce extracellular-matrix-related proteins that, when mutated, have been shown to result in the development of brittle cornea syndrome. This dysfunction results from aberrant protein function resulting in extracellular matrix disruption. Our group recently identified and published the first known associations between variants in these genes and aortic/arterial aneurysms and dissection diseases. This paper delineates the proposed effects of mutated ZNF469 and PRDM5 on various essential extracellular matrix components, including various collagens, TGF-B, clusterin, thrombospondin, and HAPLN-1, and reviews our recent reports associating single-nucleotide variants to these genes\' development of aneurysmal and dissection diseases.
摘要：
细胞外基质是蛋白质和其他分子的复杂网络，对支持至关重要，完整性，以及人体内细胞和组织的结构。基因ZNF469和PRDM5各自产生细胞外基质相关蛋白，当变异时，已被证明会导致脆性角膜综合征的发展。这种功能障碍是由导致细胞外基质破坏的异常蛋白质功能引起的。我们的小组最近确定并发表了这些基因变异与主动脉/动脉瘤和夹层疾病之间的第一个已知关联。本文描述了突变的ZNF469和PRDM5对各种基本细胞外基质成分的作用，包括各种胶原蛋白，TGF-B,clusterin,血小板反应蛋白,和HAPLN-1，并回顾了我们最近的报道，将单核苷酸变异与动脉瘤和夹层疾病的这些基因的发展联系起来。
