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编码皮下母体复合元件的NLRP基因变异与双亲胎盘介质细胞失生症有关

Ayaka Murase¹, Hiroyuki Mishima², Saori Aoki¹

¹Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, 849-8501, Japan.

|August 19, 2025

概括

在NLRP基因的母体变异可能会导致双亲胎盘介质细胞失生症 (BiPMD) 与多部位印记障碍 (MLIDs). 这表明印记障碍谱内的连续性,影响胎盘发育.

科学领域:

遗传学是一个遗传学.
发展生物学发展生物学
生殖医学生殖医学

背景情况:

胎盘介质细胞失生症 (PMD) 是一个胎盘异常.
双亲PMD (BiPMD) 涉及到印记差异甲基化区域 (DMRs) 的异常甲基化.
皮下母体复合体 (SCMC) 基因变异与类似的疾病有关,但它们在BiPMD中的作用尚不清楚.

研究的目的:

调查皮下母性复合体 (SCMC) 基因变异在双亲胎盘介质细胞失生症 (BiPMD) 发病过程中的作用.
探索SCMC基因变异与BiPMD中的多部位印记干扰 (MLIDs) 之间的关联.

主要方法:

七位患有BiPMD的母亲的全外测序.
专注于皮下母体复合体 (SCMC) 和DNA甲基化维护基因.
甲基化特异的多重结合依赖于胎盘组织的探针放大 (MS-MLPA).

主要成果:

鉴定了NLRP5中的复合异构变体和NLRP2中的异构变体,这些变体发生在双胞胎母体发育障碍的母亲身上.
在分析表明NLRP5框架转移变异的致病性.
MS-MLPA在多个印制的DMR中揭示了异常的甲基化模式,病例之间和病例内都有变化.

结论:

在NLRP基因 (编码SCMC组件) 中的母性变异可能会导致MLIDs的BiPMD.
SCMC 功能障碍可能导致马赛克印记错误,导致 BiPMD.
活产儿的BiPMD,MLID和双亲的水性形可能代表着印记障碍的一系列.

关键词:

通过DNA甲基化.不同甲基化地区的区别.基因组印记是指基因组的印记.水性形分子.多部位印记干扰扰乱胎盘介质细胞失生症是胎盘介质细胞失生症皮层下母体复合体皮层下母体复合体

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