作为自闭症谱系障碍模型的DSCAM异构性认知行为表型
bioRxiv : the preprint server for biology
|June 19, 2024
概括
唐氏综合征细胞粘附分子 (DSCAM) 基因的功能丧失会导致小鼠的自闭症类行为. 这种DSCAM基因突变导致认知缺陷,支持其在自闭症谱系障碍 (ASD) 研究中的作用.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
背景情况:
- 自闭症谱系障碍 (ASD) 影响了36个美国儿童中的1个,患病率显著增加.
- 唐氏综合征细胞粘附分子 (DSCAM) 基因的新功能丧失 (dnLoF) 突变被确定为ASD的关键遗传风险因素.
- 以前的研究将DSCAM切除与小鼠模型中的社会缺陷和重复行为联系起来.
研究的目的:
- 在小鼠模型中调查与DSCAM低表达相关的行为和认知现象的全谱.
- 为了确定DSCAM哈普洛缺陷是否能够捕捉到更广泛的ASD相关行为,特别是认知缺陷.
主要方法:
- DSCAM 2J +/-小鼠的综合认知和行为表型,这些小鼠失去一个 DSCAM 基因副本.
- 评估运动协调,焦虑类行为以及各种学习和记忆范式 (工作记忆,长期记忆,情境恐惧学习,隐式学习).
主要成果:
- DSCAM 2J +/-小鼠表现出多动,焦虑增加和运动协调受损.
- 在海马体依赖的学习和记忆中观察到显著的缺陷,包括工作记忆,长期记忆和上下文恐惧学习.
- 在DSCAM2J+/-小鼠中,隐式学习过程没有受到影响.
结论:
- 在小鼠中失去一个DSCAM基因副本 (哈普洛因缺乏症) 会重现关键的自闭症类行为,包括在人类ASD中观察到的认知障碍.
- 这些发现加强了DSCAM dnLoF突变作为ASD的重要贡献者的证据.
- DSCAM 2J +/- 鼠标模型被验证为进一步ASD研究和测试潜在疗法的宝贵工具.
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