Department of Genetics, Washington University in St. Louis, St. Louis, Missouri, USA.
Department of Psychiatry, Washington University in St. Louis, St. Louis, Missouri, USA.
Genes Brain Behav. 2022 Jan;21(1):e12750. doi: 10.1111/gbb.12750. Epub 2021 Jun 10.
Williams Syndrome results in distinct behavioral phenotypes, which include learning deficits, anxiety, increased phobias and hypersociability. While the underlying mechanisms driving this subset of phenotypes is unknown, oxytocin (OT) dysregulation is hypothesized to be involved as some studies have shown elevated blood OT and altered OT receptor expression in patients. A "Complete Deletion" (CD) mouse, modeling the hemizygous deletion in Williams Syndrome, recapitulates many of the phenotypes present in humans. These CD mice also exhibit impaired fear responses in the conditioned fear task. Here, we address whether OT dysregulation is responsible for this impaired associative fear memory response. We show direct delivery of an OT receptor antagonist to the central nervous system did not rescue the attenuated contextual or cued fear memory responses in CD mice. Thus, increased OT signaling is not acutely responsible for this phenotype. We also evaluated OT receptor and serotonin transporter availability in regions related to fear learning, memory and sociability using autoradiography in wild type and CD mice. While no differences withstood correction, we identified regions that may warrant further investigation. There was a nonsignificant decrease in OT receptor expression in the lateral septal nucleus and nonsignificant lowered serotonin transporter availability in the striatum and orbitofrontal cortex. Together, these data suggest the fear conditioning anomalies in the Williams Syndrome mouse model are independent of any alterations in the oxytocinergic system caused by deletion of the Williams locus.
威廉姆斯综合征导致明显的行为表型,包括学习障碍、焦虑、增加恐惧症和过度社交。虽然导致这组表型的潜在机制尚不清楚,但假设催产素(OT)失调与此有关,因为一些研究表明患者血液中的 OT 升高和 OT 受体表达改变。“完全缺失”(CD)小鼠模拟了威廉姆斯综合征的半合子缺失,重现了人类存在的许多表型。这些 CD 小鼠在条件性恐惧任务中也表现出恐惧反应受损。在这里,我们研究了 OT 失调是否是导致这种受损的联想性恐惧记忆反应的原因。我们表明,直接向中枢神经系统输送 OT 受体拮抗剂不能挽救 CD 小鼠中减弱的上下文或提示性恐惧记忆反应。因此,增加的 OT 信号不是急性负责这种表型的原因。我们还使用野生型和 CD 小鼠的放射自显影术评估了与恐惧学习、记忆和社交性相关的区域中的 OT 受体和 5-羟色胺转运体的可用性。虽然没有经过校正的差异,但我们确定了一些可能需要进一步研究的区域。外侧隔核中的 OT 受体表达略有下降,纹状体和眶额皮质中的 5-羟色胺转运体可用性略有降低。总的来说,这些数据表明,威廉姆斯综合征小鼠模型中的恐惧条件反射异常与由于威廉姆斯基因座缺失引起的任何催产素能系统改变无关。