胸前动脉瘤和剖析中的遗传影响
Eric M Isselbacher1, Christian Lacks Lino Cardenas1, Mark E Lindsay2
1From Thoracic Aortic Center (E.M.I., C.L.L.C., M.E.L.), Cardiovascular Genetics Program (M.E.L.), Cardiovascular Research Center (C.L.L.C., M.E.L.), and Cardiology Division (E.M.I., C.L.L.C., M.E.L.), Department of Medicine, and Pediatric Cardiology Division, Department of Pediatrics (M.E.L.), Massachusetts General Hospital, Harvard Medical School, Boston.
Circulation
|June 15, 2016
概括
遗传因素导致胸大动脉动脉瘤, 这是一种危险的疾病. 转化增长因子β (TGF-β) 信号和光滑肌肉收缩基因的发现为动脉瘤的起源和潜在治疗提供了洞察力.
科学领域:
- 心血管遗传学
- 大动脉疾病的发病
背景情况:
- 胸前动脉瘤 (TAA) 是一种危及生命的疾病,对其起源的了解有限.
- 遗传倾向是TAA的已知危险因素,增加了剖析或破裂的易感性.
研究的目的:
- 审查有关胸前动脉瘤相关基因的当前知识.
- 探讨有关动脉瘤发展的机制的不同假设.
主要方法:
- 对TAA遗传变化的已发表数据的文献综述.
- 在有胸前动脉瘤史的家庭中发现基因的分析.
主要成果:
- 确定了两个主要类型的基因变异:TGF-β信号级联突变 (TGF-β血管病变) 和光滑肌收缩器官突变 (光滑肌收缩血管病变).
- 确定的特定基因包括FBN1,TGFBR1-3,SMAD2,SMAD3,SKI,ACTA2,MYH11,MYLK和PRKG1.
结论:
- 基因发现显著提升了TAA病变的理解.
- 来自遗传发现的机制性见解正在指导TAA的新疗法发展.
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