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多态的系统级集成识别了TANGO2缺乏障碍的遗传修饰者

Manuel Airoldi¹, Heather Bondi¹, Veronica Remori¹

¹Department of Science and High Technology, University of Insubria, 22100 Como, Italy.

|December 30, 2025

概括

坦哥2缺乏症甚至在具有相同基因变异的兄弟姐妹中也表现出各种症状. 脂质代谢和基因表达修饰剂影响疾病严重程度,影响神经发育并提供治疗见解.

科学领域:

遗传学和系统生物学系统生物学
罕见疾病病理生理学
基因型与表型的相关性

背景情况:

坦戈2缺乏症是一种罕见的自体衰退性疾病,具有显著的表型变异性.
同样的TANGO2变异可以导致截然不同的临床结果,甚至在家庭内.
了解修饰机制对于解释疾病严重程度和指导个性化治疗至关重要.

研究的目的:

调查TANGO2缺乏障碍中表型变异的基础分子机制.
确定影响受影响个体疾病严重程度的基因和表达基因修饰剂.
在罕见疾病中应用整合性系统生物学框架来研究基因型-表型相关性.

主要方法:

开发了一个整合性系统生物学框架,结合了外体序列,转录组学和变异效应预测.
将框架应用于两个具有相同TANGO2变异但临床结果不同的兄弟姐妹.
利用个性化的蛋白质-蛋白质相互作用网络和多omics分析,以获得高特异性.

主要成果:

严重受影响的兄弟姐妹表现出常见的APOB变体和VLDLR,NTN1和LDHA的改变表达的负担,涉及脂质代谢和神经发育途径.
无症状的兄弟姐妹有一个保护性的EP300 3'-UTR变异,没有APOB变异负担,表明增强的转录后调节.
在受影响的兄弟姐妹中确定了受损的脂质代谢和神经发育途径,与无症状兄弟姐妹的调节机制形成鲜明对比.

结论:

脂质代谢是TANGO2缺乏病理生理学的关键途径.
自和髓作为潜在的修饰机制出现,有助于表型变异.
综合性多学科框架对于罕见疾病研究和个性化治疗策略有价值.

关键词:

坦哥2缺乏障碍是一种TANGO2缺乏障碍.基因修饰剂基因修饰剂基因修饰剂多种主题的多种主题.网络医学网络医学

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