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SynaptopathyDB集成了突触蛋白质组,遗传和表型数据,以推进神经系统疾病研究

Oksana Sorokina¹, Digin Dominic², Àlex Bayés^3,4

¹Institute for Adaptive and Neural Computation, School of Informatics, University of Edinburgh, Edinburgh, EH8 9AB, UK.

Scientific reports

|December 2, 2025

概括

由基因变异引起的突触功能障碍会导致大脑疾病. SynaptopathyDB集成了有关突触蛋白和1,266种疾病的遗传联系的数据,帮助研究这些突触病.

科学领域:

神经科学是一个神经科学.
遗传学遗传学是一个
生物信息学是一种生物信息学.

背景情况:

由于基因变异的突触功能障碍是导致大脑和行为障碍的主要原因,称为突触病.
了解突触病的遗传基础对于开发有效的治疗方法至关重要.

研究的目的:

创建SynaptopathyDB,这是一个集成的在线资源,用于研究突触病的遗传基础和临床特征.
确定哺乳动物突触蛋白的共识集及其与人类疾病的关联.

主要方法:

来自 64 个哺乳动物突触蛋白质学研究的综合数据.
将蛋白质组数据与遗传和表型资源结合起来.
确定了3437种哺乳动物突触蛋白的共识集.

主要成果:

确定了3437种哺乳动物突触蛋白.
在954个基因 (28%的突触蛋白质组) 中发现了与1,266个OMIM疾病相关的突变.
证明了突触基因变异在神经,精神和发育障碍中的广泛作用.

结论:

SynaptopathyDB 作为一个有价值的平台,用于发现突触蛋白和遗传变异在人类疾病中的作用.
突触基因变异对中枢神经系统和外周神经系统疾病的负担有显著的贡献.
这些发现突显了突触病对个人和医疗保健系统的普遍影响.

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