Institute of Pharmacology and Toxicology, University of Zurich-Vetsuisse, Zurich, Switzerland.
Cereneo Center for Interdisciplinary Research, Vitznau, Switzerland.
Neuropsychopharmacology. 2019 Mar;44(4):703-710. doi: 10.1038/s41386-018-0189-3. Epub 2018 Aug 27.
15q13.3 microdeletion is one of several gene copy number variants (CNVs) conferring increased risk of psychiatric and neurological disorders. This microdeletion gives rise to a variable spectrum of pathological phenotypes, ranging from asymptomatic to severe clinical outcomes. The reasons for these varying phenotypic outcomes remain unknown. Using a mouse model of hemizygous deletion of the orthologous region of 15q13.3, the present study examined whether exposure to stressful life events might interact with hemizygous 15q13.3 microdeletion in the development of behavioral dysfunctions. We show that hemizygous 15q13.3 microdeletion alone induces only limited effects on adult behaviors, but when combined with psychological stress in pubescence (postnatal days 30-40), it impairs sensorimotor gating and increases the sensitivity to the psychostimulant drug, amphetamine, at adult age. Stress exposure in adolescence (postnatal days 50-60) did not induce similar interactions with 15q13.3 microdeletion, but led to impaired emotional learning and memory and social behavior regardless of the genetic background. The present study provides the first evidence for interactive effects between hemizygous 15q13.3 microdeletion and exposure to stressful life events, and at the same time, it emphasizes an important influence of the precise timing of postnatal stress exposure in these interactions. Our findings suggest that hemizygous 15q13.3 microdeletion can act as a "disease primer" that increases the carrier's vulnerability to the detrimental effects of peripubertal stress exposure on adult behaviors.
15q13.3 微缺失是几种基因拷贝数变异 (CNVs) 之一,可增加精神和神经疾病的风险。这种微缺失导致一系列不同的病理表型,从无症状到严重的临床结果。这些不同表型结果的原因尚不清楚。本研究使用 15q13.3 同源区域半合子缺失的小鼠模型,研究了应激性生活事件的暴露是否可能与 15q13.3 微缺失的半合子状态相互作用,从而影响行为功能障碍的发展。结果显示,15q13.3 微缺失单独存在时仅对成年行为产生有限的影响,但与青春期(出生后第 30-40 天)的心理压力相结合时,会损害感觉运动门控,并增加成年期对精神兴奋剂安非他命的敏感性。青春期(出生后第 50-60 天)的应激暴露不会与 15q13.3 微缺失产生类似的相互作用,但无论遗传背景如何,都会导致情绪学习和记忆以及社会行为受损。本研究首次提供了半合子 15q13.3 微缺失与应激性生活事件暴露之间相互作用的证据,同时强调了产后应激暴露的精确时间对这些相互作用的重要影响。研究结果表明,半合子 15q13.3 微缺失可作为“疾病启动子”,增加携带者对青春期应激暴露对成年行为产生不利影响的易感性。