Kallenbach Klaus, Remes Anca, Müller Oliver J, Arif Rawa, Zaradzki Marcin, Wagner Andreas H
Institute for Cardiac Surgery and Interventional Cardiology (INCCI), Department of Cardiac Surgery, 1210 Luxembourg, Luxembourg.
VASCERN HTAD European Reference Center, 1210 Luxembourg, Luxembourg.
J Clin Med. 2022 Jul 6;11(14):3934. doi: 10.3390/jcm11143934.
Marfan syndrome (MFS) is one of the most common inherited disorders of connective tissue caused by mutations of the fibrillin-1 gene (FBN1). Vascular abnormalities, such as the enlargement of the aorta with the risk of life-threatening rupture are frequently observed. However, current treatment is limited and therapeutic options focus solely on symptomatic therapy. Gene therapy focuses on genetically modifying cells to produce a therapeutic effect and may be a promising treatment option for MFS. Here, we first provide an overview of the historical background and characterization of MFS. Subsequently, we summarise current gene therapy options and possible translational concepts for this inherited disorder that affects connective tissue.
马凡综合征（MFS）是由原纤维蛋白-1基因（FBN1）突变引起的最常见的遗传性结缔组织疾病之一。经常观察到血管异常，如主动脉扩张并有危及生命的破裂风险。然而，目前的治疗方法有限，治疗选择仅集中在对症治疗上。基因治疗专注于对细胞进行基因改造以产生治疗效果，可能是治疗马凡综合征的一种有前景的治疗选择。在这里，我们首先概述马凡综合征的历史背景和特征。随后，我们总结了目前针对这种影响结缔组织的遗传性疾病的基因治疗选择和可能的转化概念。
