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纤维细胞生物学与自闭症和先天性心脏病相交

Nia Teerikorpi^1,2, Kate E McCluskey^1,2, Ethel Bader^1,2

¹Department of Psychiatry and Behavioral Sciences, University of California, San Francisco, San Francisco, CA 94143, USA.

Development (Cambridge, England)

|June 24, 2025

概括

自闭症谱系障碍和先天性心脏病同时发生,共享的基因影响神经前代细胞和乳毛生物学. 识别这些基因有助于早期干预心脏缺陷新生儿自闭症风险.

科学领域:

遗传学是一个遗传学.
发展生物学发展生物学
神经科学是一个神经科学.

背景情况:

自闭症谱系障碍 (ASD) 和先天性心脏病 (CHD) 经常同时发生,但分子联系尚不清楚.
早期识别与ASD相关的CHD变体,可以及时进行干预.
影响神经前体细胞 (NPC) 生物学的基因干扰在ASD中很常见.

研究的目的:

识别破坏神经前体细胞 (NPC) 生物学的先天性心脏病 (CHD) 基因.
研究这些基因在增加自闭症谱系障碍 (ASD) 风险方面的作用.
探索ASD和CHD之间共享的分子机制,特别是纤毛生物学.

主要方法:

进行了体外聚合的CRISPR干扰选,以确定影响NPC生物学的CHD基因.
分析了状生物路径的基因丰富.
使用Xenopus tropicalis进行了体内研究,以验证发育中的基因功能.

主要成果:

确定了45个破坏NPC生物学的CHD基因.
在纤毛生物路径中发现ASD和CHD基因的丰富.
证明扰乱七个特定的基因 (CEP290,CHD4,KMT2E,NSD1,OFD1,RFX3,TAOK1) 在体外会损害初级毛形成.
在体内验证了TAOK1在运动性乳毛和心脏发育中的作用.

结论:

突出显示了一组可能导致ASD风险的CHD基因.
强调了毛在ASD和CHD的共同生物学中的重要作用.
提供了在患有心脏病的婴儿和有ASD风险的婴儿早期干预的潜在目标.

关键词:

自闭症谱系障碍自闭症谱系障碍克里斯普里是指克里斯普里.西里亚 (Cilia) 是一个小体.遗传性心脏病是一种先天性心脏病.核武器的扩散图布林 (Tubulin) 是一种原蛋白.

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