TGF-β信号通路与马方综合征及Loeyz-Dietz综合征研究进展

The Research Progress of TGF-β Signaling Pathway in Marfan Syndrome and Loeyz-Dietz Syndrome

马方综合征及Loeyz-Dietz综合征是常染色体显性遗传结缔组织病,以主动脉瘤样扩张并进而发生破裂猝死为主要临床特征。近年来,分子生物学研究发现TGF-β信号通路及其调控基因在上述遗传性主动脉瘤疾病的病理生理过程中起到重要作用。本文通过对TGF-β信号通路与马方综合征及Loeyz-Dietz综合征相关研究进展进行综述,分析这一信号通路对于这两种遗传结缔组织病诊治的重要意义。

The Marfan syndrome and Loeyz-Dietz syndrome are autosomal dominant connective tissue disorders. With high incidence of aortic aneurysm, patients with these inheritable aortic aneurysms have high mortality. Recent molecular biology researches identify TGF-β signaling as a key role in the pathophysiological process of these inheritable aortic aneurysms. This article reviews the research progress of TGF-β signaling pathway in Marfan syndrome and Loeyz-Dietz syndrome and shows new therapeutic approaches innovated by this molecular pathway.