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Cell:新的研究表明自闭症并不仅仅是一种脑部疾病

2016-06-13 MedSci MedSci原创

Cell:新的研究表明自闭症并不仅仅是一种脑部疾病近日来自哈佛医学院的一项新的研究表明,自闭症谱系障碍(ASD)——以社交能力和重复性的行为受损以及对感官刺激异常反应为特点的疾病——并不仅仅是因为脑发育缺陷所致,该研究结果已发表于Cell。事实上, ASD的一些影响甚至超出了大脑的范围,并可影响外周神经,而外周神经是负责将四肢的感觉信息传递至大脑。意味着这些神经系统的其他部分或是导致ASD患者对外

近日来自哈佛医学院的一项新的研究表明,自闭症谱系障碍(ASD)——以社交能力和重复性的行为受损以及对感官刺激异常反应为特点的疾病——并不仅仅是因为脑发育缺陷所致,该研究结果已发表于Cell。

事实上, ASD的一些影响甚至超出了大脑的范围,并可影响外周神经,而外周神经是负责将四肢的感觉信息传递至大脑。意味着这些神经系统的其他部分或是导致ASD患者对外界刺激异常反应的部分原因。


该研究领导者David Ginty对小鼠进行了实验研究,探究了ASD人类患者常见的几个相关的基因突变。

其中两个基因突变发生于Mecp2和Gabrb3,这两种基因都是已知的可影响大脑突触功能的基因,意味着这两个基因对于神经信号传导来说必不可少。而ASD患者中常出现这种基因突变。

虽然目前已知一些基因突变与ASD的发生有关,但是探究神经系统中何处发生问题的研究已在进行。通过基因工程改造小鼠使其外周感觉神经元携带上述基因突变,这些外周感觉神经元可检测作用于皮肤上的光刺激。结果发现突变对于小鼠过激反应来说是必须且足够的。

研究人员还发现,这些基因突变小鼠不再能够通过触觉来区分不同的物体,而且向它们的颈部吹气时,小鼠的反应也不同。基于这些反应,研究人员认为基因突变改变了小鼠的触觉反应。

接下来通过研究人员在转基因小鼠身上探究了上述基因对机体社交活动的影响。结果发现,与对照组小鼠相比,基因突变小鼠在进入一个开放空间时表现出更强的焦虑感,而这种焦虑或许来源于基因突变小鼠触觉的改变。

其发生机制是怎样的?研究人员认为触觉及其它感觉刺激对于突变体小鼠来说或是过载的信息,从而使得小鼠对于普通的刺激表现出过度的敏感,不过研究人员正在探究这一假设的准确性。

“这项研究的关键之处在于我们发现触觉和感觉障碍可促进机体的行为缺陷,而这是既往研究所未发现的。本研究中发现这一障碍可影响机体的焦虑感和社交活动。

该研究结果表明,ASD或许并不仅仅与脑部发育障碍有关。事实上,基因突变或可使得ASD患者的实际感受和触觉与正常人不同。

理解这个的最好的方式是想象一个音量旋钮,例如,对于正常人来说的音量5,对于ASD患者来说或是音量10,这使得患者感觉更为明显。这个“音量旋钮”是由基因控制的,而并不仅仅是一种脑部疾病。

触觉感受对于调节我们与环境之间的关系是非常重要的,对于我们驾驭周围环境也是非常重要的。异常的触觉感受仅是ASD的其中一个表现,虽然该研究发现并不能用于解释所有的ASD患者,但是触觉缺陷或可有助于解释ASD患者的一些行为异常。

重要的是需要指出,虽然该研究仅是小鼠实验的研究结果,但是其研究结果仍十分有意义,未来需要在人体中进行相关试验以验证本研究发现,并为未来ASD患者的治疗提供信息。

原始出处:

Autism isn’t just a brain disease, new evidence suggests. Alert, 10 JUN 2016.

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    2016-10-12 ylzr123

    好文,值得推荐。

    0

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    2016-06-15 xiongke014
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    2017-01-01 维他命

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