自闭症谱系障碍和阿尔茨海默病之间的遗传和病原性重叠:药物重定位的进化特征和机会
Ekaterina A Trifonova1, Anna A Pashchenko2, Roman A Ivanov1
1Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia.
International journal of molecular sciences
|October 29, 2025
概括
自闭症谱系障碍 (ASD) 和阿尔茨海默病 (AD) 分享与mTOR信号传递相关的古老基因. 研究人员确定了针对这种途径的潜在ASD治疗方法,提供了新的治疗途径.
科学领域:
- 遗传学 遗传学 是一个
- 神经科学是一个神经科学.
- 进化生物学 进化生物学
背景情况:
- 自闭症谱系障碍 (ASD) 是一种神经发育状况,而阿尔茨海默病 (AD) 是神经退行性疾病.
- 目前通过外基因组测序诊断的ASD诊断很少为治疗策略提供信息.
- ASD,AD和mTOR信号之间的联系仍然没有得到充分的探索.
研究的目的:
- 分析连接ASD,AD和mTOR信号的基因网络.
- 研究与ASD和AD相关的基因的进化史.
- 在mTOR途径中确定ASD的潜在治疗点.
主要方法:
- 基因网络的重建和分析.
- 基层层图分析使用基层层图年龄指数 (PAI) 和分歧指数 (DI).
- 使用ANDVisio工具识别mTOR监管机构.
主要成果:
- 在易患ASD和AD的基因之间发现了显著的重叠,与mTOR信号传递有很强的联系.
- 无论是ASD还是AD基因组,都显示出进化古老基因的丰富.
- 具有非常低的DI值的ASD倾向基因表明稳定选择.
结论:
- ASD和AD共享与mTOR信号传递相关的共同的进化和分子基础.
- 进化分析揭示了神经发育和神经退行性疾病中保存的遗传因素.
- 针对mTOR的几种药理和天然化合物显示出用于ASD治疗的潜力.
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