The underlying genetic causes and altered signaling pathways of brain arteriovenous malformations remain unknown. A study published in The New England Journal of Medicine reported that KRAS somatic mutations (p.Gly12Val/Asp) were identified in brain arteriovenous malformations of human subjects and endothelial cell-enriched cultures, which might specifically activate the MAPK (mitogen-activated protein kinase)–ERK (extracellular signal-regulated kinase) signaling pathway in brain endothelial cells.

中文翻译：

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KRAS激活信号触发动静脉畸形

大脑动静脉畸形的潜在遗传原因和改变的信号传导途径仍然未知。发表在《新英格兰医学杂志》上的一项研究报告说，在人类受试者的脑动静脉畸形和富含内皮细胞的培养物中，发现了KRAS体细胞突变（p.Gly12Val / Asp），这可能会特异性激活MAPK（促分裂原活化蛋白激酶） ）–脑内皮细胞中的ERK（细胞外信号调节激酶）信号传导途径。