Esclassan Frederic, Francois Jennifer, Phillips Keith G, Loomis Sally, Gilmour Gary
In Vivo Pharmacology, Lilly Research Centre, Lilly Research Laboratories, Eli Lilly & Co. Ltd.
Neurosymptomatics, Lilly Research Centre, Lilly Research Laboratories, Eli Lilly & Co. Ltd.
Behav Neurosci. 2015 Feb;129(1):74-85. doi: 10.1037/bne0000024. Epub 2014 Nov 24.
Neurexins are neuronal presynaptic proteins that play a key role in mediation of synapse formation. Heterozygous partial deletions in the neurexin-1 gene (NRXN1, 2p16.3) have been observed in autism spectrum disorder (ASD) patients. NRXN1-α knockout (KO) mice present behavioral impairments that resemble some of the core ASD symptoms of social impairment and inflexibility/stereotypy. At present, a thorough assessment of cognitive function has yet to be completed. Rats, containing a biallelic deletion of the NRNX1-α gene on a Sprague Dawley background were compared to littermate wild types across a range of tasks designed to test functional domains disrupted in ASD and other neurodevelopmental disorders, including sensory perception (prepulse inhibition), attention (latent inhibition), associative learning (instrumental and Pavlovian conditioning), and memory (rewarded alternation T maze and spatial discrimination). NRXN1α KO rats were found to present with large and persistent nonsocial deficits, including hyperactivity, deficits in simple instrumental learning, latent inhibition, and spatial-dependent learning. No deficit in sensorimotor gating was observed, despite the presence of an exaggerated startle response. Although KO animals were also able to learn a simple Pavlovian conditioning discrimination, they did display impaired latent inhibition. The presence of pronounced impairments in several domains in NRXN1α KO rats clearly suggests that nonsocial cognitive deficits can also be measured in an animal model of ASD. Further exploration of those deficits, both clinically and preclinically, as planned in the Innovative Medicines Initiative's European Autism Interventions: A Multicenter Study for Developing New Medications program, may help to better understand the brain circuitry involved in ASD and therefore open new avenues to advance novel therapies.
神经连接蛋白是神经元突触前蛋白,在突触形成的介导中起关键作用。在自闭症谱系障碍(ASD)患者中已观察到神经连接蛋白1基因(NRXN1,2p16.3)的杂合性部分缺失。NRXN1-α基因敲除(KO)小鼠表现出行为障碍,类似于ASD社会障碍和僵化/刻板行为等一些核心症状。目前,尚未完成对认知功能的全面评估。将在斯普拉格-道利背景上含有NRNX1-α基因双等位基因缺失的大鼠与同窝野生型大鼠在一系列旨在测试ASD和其他神经发育障碍中功能域破坏的任务中进行比较,这些功能域包括感觉知觉(前脉冲抑制)、注意力(潜伏抑制)、联想学习(工具性和巴甫洛夫条件反射)以及记忆(奖励交替T迷宫和空间辨别)。发现NRXN1α基因敲除大鼠存在大量且持续的非社交缺陷,包括多动、简单工具性学习缺陷、潜伏抑制和空间依赖性学习缺陷。尽管存在夸张的惊吓反应,但未观察到感觉运动门控缺陷。虽然基因敲除动物也能够学习简单的巴甫洛夫条件反射辨别,但它们确实表现出潜伏抑制受损。NRXN1α基因敲除大鼠在几个功能域中存在明显缺陷,这清楚地表明在ASD动物模型中也可以测量非社交认知缺陷。按照创新药物倡议组织的欧洲自闭症干预:开发新药物多中心研究计划所规划的那样,在临床和临床前对这些缺陷进行进一步探索,可能有助于更好地理解ASD所涉及的脑回路,从而为推进新疗法开辟新途径。