Samuel Lunenfeld Research Institute at Mount Sinai Hospital, Toronto, Ontario, M5G 1X5, Canada.
J Neurosci. 2013 May 1;33(18):7654-66. doi: 10.1523/JNEUROSCI.0091-13.2013.
Schizophrenia is thought to result from interactions between susceptible genotypes and environmental risk factors. DISC1 is an important gene for schizophrenia and mood disorders based on both human and animal studies. In the present study we sought to investigate interactions between two distinct point mutations in the mouse Disc1 gene (L100P and Q31L) and maternal immune activation (MIA) during pregnancy with polyinosinic:polycytidylic acid (polyI:C). PolyI:C given at 5 mg/kg impaired cognitive and social behavior in both wild-type (WT) and Disc1-Q31L(+/-) offspring, and reduced prepulse inhibition at 16 but not 8 weeks of age. Disc1-L100P(+/-) mutants were more sensitive to MIA than WT or Disc1-Q31L(+/-) mice. Interleukin-6 (IL-6) is a critical cytokine for mediating the behavioral and transcriptional effects of polyI:C. We found a more pronounced increase of IL-6 in response to polyI:C in fetal brain in Disc1-L100P(+/-) mice compared with WT or Disc1-Q31L(+/-) mice. Coadministration of an anti-IL-6 antibody with polyI:C reversed schizophrenia-related behavioral phenotypes in Disc1-L100P(+/-) mice. In summary, we found specific interactions between discrete genetic (Disc1-L100P(+/-)) and environmental factors (MIA) that exacerbate schizophrenia-related phenotypes. IL-6 may be important in the pathophysiology of this interaction.
精神分裂症被认为是易感基因型与环境风险因素相互作用的结果。DISC1 是精神分裂症和情绪障碍的重要基因,这一结论基于人类和动物研究。在本研究中,我们试图研究小鼠 Disc1 基因(L100P 和 Q31L)的两个不同点突变与孕期母体免疫激活(MIA)与聚肌胞苷酸(polyI:C)之间的相互作用。polyI:C 以 5mg/kg 剂量给药会损害 WT 和 Disc1-Q31L(+/-) 后代的认知和社交行为,并在 16 周而非 8 周时降低条件性听觉惊吓反射(PPI)。与 WT 或 Disc1-Q31L(+/-) 小鼠相比,Disc1-L100P(+/-) 突变体对 MIA 更敏感。白细胞介素-6(IL-6)是一种关键细胞因子,可介导 polyI:C 的行为和转录效应。我们发现,与 WT 或 Disc1-Q31L(+/-) 小鼠相比,Disc1-L100P(+/-) 小鼠胎儿大脑对 polyI:C 的反应中 IL-6 增加更为明显。在 Disc1-L100P(+/-) 小鼠中,polyI:C 与抗 IL-6 抗体共同给药可逆转与精神分裂症相关的行为表型。总之,我们发现了离散遗传(Disc1-L100P(+/-))和环境因素(MIA)之间的特定相互作用,这些相互作用加剧了与精神分裂症相关的表型。IL-6 可能在这种相互作用的病理生理学中起重要作用。