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由ADAMTS16缺陷引起的细胞外矩阵失调导致双动脉与拉菲形成

Ying Lin^1,2,3, Qifan Yang^1,2,3, Xiaoping Lin^1,2,3

¹Department of Cardiology, the Second Affiliated Hospital, Zhejiang University School of Medicine (Y.L., Q.Y., X. Lin, X. Liu, Y.Q., D.X., N.C., W.H., X.H., Z.Y., X.K., L.Z., Z.Z., W.Z., J.W.), Hangzhou, China.

|November 29, 2023

概括

研究人员确定ADAMTS16是一种导致双主动脉 (BAV) 的新基因. 缺少ADAMTS16导致BAV的形成,为心血管发育和疾病提供了新的见解.

科学领域:

心血管生物学
发育生物学
遗传学

背景情况:

了解主动脉发育和双主动脉形成的分子机制对于优化主动脉治疗策略至关重要.
在心血管发育和疾病中,ADAMTS基因家族 (具有血栓蛋白因子的分解蛋白和金属蛋白酶) 起作用.
之前的研究越来越多地发现了参与大动脉发育和BAV形成的基因.

研究的目的:

研究ADAMTS家族成员在主动脉发育和BAV形成中的作用.
确定与BAV病因相关的特定ADAMTS基因.
阐明ADAMTS相关的BAV的分子机制.

主要方法:

在斑马鱼中选ADAMTS家族基因和BAV患者队列中的DNA测序.
在斑马鱼和小鼠模型中使用现场杂交和遗传追踪的基因表达分析.
使用CRISPR/Cas9生成ADAMTS基因淘汰和淘汰小鼠模型.
血统追踪,大量RNA测序和诱导性的多能干细胞研究,以分析细胞调节和信号通路.
免疫组织化学评估心脏异常和细胞外基因组件.

主要成果:

鉴定出ADAMTS16是BAV引起的基因,在BAV家族中发现了一个特定的变异 (p. H357Q).
在大动脉发育过程中,ADAMTS16表现出独特的时空表达模式.
缺少Adamts16的小鼠模型表现出BAV表型,其特征是尖端融合和门加厚.
在Tie2系细胞中ADAMTS16的缺陷重现了BAV表型,影响了内皮和第二心场细胞.
在ADAMTS16缺陷模型中观察到增强的FAK信号和升高的纤维素水平.

结论:

发现了一种新的BAV引起的ADAMTS16变种 (p. H357Q).
ADAMTS16 缺乏与双主动脉的形成直接相关.
这些发现为BAV的遗传和分子基础提供了关键的见解.

关键词:

亚当斯家族双主动脉委托机构细胞外基质拉菲

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