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智力/发育障碍的DNA甲基化生物标志物,跨越一生

Janine M LaSalle¹

¹Department of Medical Microbiology and Immunology, Perinatal Origins of Disparities Center, MIND Institute, Genome Center, Environmental Health Sciences Center, University of California Davis, One Shields Ave., Davis, CA, 95616, USA. jmlasalle@ucdavis.edu.

Journal of neurodevelopmental disorders

|February 19, 2025

概括

DNA甲基化生物标志物可以预测智力/发育障碍 (IDD) 风险,并帮助诊断遗传变异. 可访问的围产组织为早期检测和干预策略提供了有前途的途径.

科学领域:

表观遗传学在表观遗传学中,表观遗传学是指表观遗传学.
基因组学就是基因组学.
发育生物学发展生物学

背景情况:

表观遗传机制,如DNA甲基化,弥合了静态基因组和动态环境之间的差距.
全基因组DNA甲基化分析正在确定表观遗传生物标志物,用于预测智力/发育障碍 (IDD) 风险.
DNA甲基化特征对于从外体序列测序分类遗传变异至关重要.

研究的目的:

探索DNA甲基化生物标记物用于预测IDD风险的实用性.
调查使用围产期组织作为代用样本用于表观遗传生物标志物分析.
了解DNA甲基化特征如何告知与神经发育障碍相关的失调生物通路.

主要方法:

全基因组DNA甲基化分析跨越多样化的人类生物标本.
使用可访问的围产组织 (胎盘,带血,新生儿血斑,无细胞DNA) 作为代用样本.
将DNA甲基化模式与遗传变异和发育结果相关联.

主要成果:

正在出现表观遗传生物标志物来预测IDD风险.
围产阶段组织显示出作为可用于表观遗传生物标志物测试的替代品的潜力.
DNA甲基化特征可以揭示疾病发病前的失调路径.

结论:

DNA甲基化生物标志物已准备好在IDD诊断和理解病因学方面增加临床使用.
这些生物标志物可以改善临床试验的终点和对IDD患者一生中健康状况的监测.
未来的应用包括产前和新生儿查IDD和其他神经发育障碍.

关键词:

衰老的衰老衰老的衰老自闭症自闭症自闭症生物标志物生物标志物细胞自由DNA 细胞自由DNA 这是带血.通过DNA甲基化.唐氏综合征是什么意思唐氏综合征在Dup15q综合征中,基因表观时钟是什么?表观遗传学在表观遗传学中,表观遗传学是指表观遗传学.暴露暴露暴露基因组的基因组学胎盘胎盘胎盘胎盘

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