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人类大脑中与自闭症相关的SHANK蛋白的表达特征

Sarah Woelfle¹, Maria T Pedro², Jan Wagner³

¹Institute for Anatomy and Cell Biology, Ulm University, Albert-Einstein-Allee 11, 89081, Ulm, Germany.

|November 12, 2023

概括

在人类和老鼠大脑中,SHANK2和SHANK3蛋白质表达模式在很大程度上保留了. 然而,SHANK2表达存在一些区域差异,这对于解释神经发育障碍研究很重要.

科学领域:

神经科学是一个神经科学.
分子生物学分子生物学
遗传学遗传学是一个

背景情况:

SHANK 蛋白质是中枢神经系统中 postsynaptic 密度中的关键支架蛋白质.
SHANK家族成员的突变与神经发育障碍有关,包括自闭症谱系障碍 (ASD).
目前对SHANK2和SHANK3表达的研究主要依赖于动物模型.

研究的目的:

分析SHANK2在死后人类大脑组织中的细胞和神经表达.
为了比较人类和小鼠大脑之间的SHANK2和SHANK3表达模式,以评估家族遗传保护.
为人类大脑区域的SHANK2和SHANK3表达模式提供参考.

主要方法:

死后人脑组织的免疫光 (IF) 染色 (来自4个人的19个区域).
在人类和小鼠大脑溶解物中对SHANK2和SHANK3异型模式进行比较分析.
如果对小鼠大脑进行染色,以评估SHANK2和SHANK3分布.

主要成果:

在人类和小鼠之间,SHANK2和SHANK3同位体表达和亚细胞分布在很大程度上保留了.
观察到SHANK2神经水平的区域差异:与小鼠相比,在人类脑干和丘脑中更高,在人类杏仁体中更低.
在两种物种的小脑中始终发现最大的SHANK2表达.

结论:

在人类和小鼠的大脑区域中,SHANK蛋白的整体表达模式在很大程度上保留了.
已知的不同物种SHANK2表达的差异需要在翻译动物研究的结果时仔细考虑.
这项研究为SHANK2和SHANK3表达模式提供了宝贵的参考资料,以指导神经发育障碍的未来研究.

关键词:

自闭症谱系障碍自闭症谱系障碍大脑区域大脑区域大脑区域死亡后的人类大脑.蛋白质表达方式蛋白质表达方式这就是SHANK2的原因.这就是SHANK3的原因.

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