Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Centre of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Trends Mol Med. 2020 Aug;26(8):783-795. doi: 10.1016/j.molmed.2020.05.004. Epub 2020 Jun 5.
Although at first glance chondrodysplasia and aneurysmal thoracic aortopathy seem oddly dissimilar, recent lines of evidences indicate that they share molecular similarities. Chondrodysplasias are a group of skeletal disorders characterized by genetic defects in hyaline cartilage. Aneurysmal thoracic aortopathy is the pathological enlargement of the thoracic aorta due to wall weakness, along with its ensuing life-threatening complications (i.e., aortic dissection and/or rupture). Extracellular matrix dysregulation, abnormal TGF-β signaling, and, to a more limited extent, endoplasmic reticulum stress emerge as common disease processes. In this review we provide a comprehensive overview of the genetic and pathomechanistic overlap as well as of how these commonalities can guide treatment strategies for both disease entities.
虽然乍一看，软骨发育不良和胸主动脉瘤样病似乎大不相同，但最近的证据表明它们具有分子相似性。软骨发育不良是一组骨骼疾病，其特征是透明软骨的遗传缺陷。胸主动脉瘤样病是由于壁薄弱导致的胸主动脉病理性扩张，以及随之而来的危及生命的并发症（即主动脉夹层和/或破裂）。细胞外基质失调、异常的 TGF-β 信号转导，以及在更有限的程度上，内质网应激，成为常见的疾病过程。在这篇综述中，我们全面概述了遗传和病理机制的重叠，以及这些共性如何为这两种疾病实体的治疗策略提供指导。
