Rutherford Holly A, Kasher Paul R, Hamilton Noémie
The Bateson Centre, Institute of Neuroscience, Department of Infection, Immunity and Cardiovascular Disease, The University of Sheffield, Sheffield, United Kingdom.
Lydia Becker Institute of Immunology and Inflammation, Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom.
Front Immunol. 2021 Jan 15;11:623650. doi: 10.3389/fimmu.2020.623650. eCollection 2020.
Autoimmune and autoinflammatory diseases are rare but often devastating disorders, underpinned by abnormal immune function. While some autoimmune disorders are thought to be triggered by a burden of infection throughout life, others are thought to be genetic in origin. Among these heritable disorders are the type I interferonopathies, including the rare Mendelian childhood-onset encephalitis Aicardi-Goutières syndrome. Patients with Aicardi Goutières syndrome are born with defects in enzymes responsible for nucleic acid metabolism and develop devastating white matter abnormalities resembling congenital cytomegalovirus brain infection. In some cases, common infections preceded the onset of the disease, suggesting immune stimulation as a potential trigger. Thus, the antiviral immune response has been actively studied in an attempt to provide clues on the pathological mechanisms and inform on the development of therapies. Animal models have been fundamental in deciphering biological mechanisms in human health and disease. Multiple rodent and zebrafish models are available to study type I interferonopathies, which have advanced our understanding of the human disease by identifying key pathological pathways and cellular drivers. However, striking differences in phenotype have also emerged between these vertebrate models, with zebrafish models recapitulating key features of the human neuropathology often lacking in rodents. In this review, we compare rodent and zebrafish models, and summarize how they have advanced our understanding of the pathological mechanisms in Aicardi Goutières syndrome and similar disorders. We highlight recent discoveries on the impact of laboratory environments on immune stimulation and how this may inform the differences in pathological severity between mouse and zebrafish models of type I interferonopathies. Understanding how these differences arise will inform the improvement of animal disease modeling to accelerate progress in the development of therapies for these devastating childhood disorders.
自身免疫性疾病和自身炎症性疾病虽罕见,但往往具有毁灭性,其发病机制是免疫功能异常。一些自身免疫性疾病被认为是由终生感染负担引发的,而另一些则被认为起源于遗传。其中遗传性疾病包括I型干扰素病,如罕见的孟德尔式儿童期起病的脑病——艾卡迪-古铁雷斯综合征。艾卡迪-古铁雷斯综合征患者出生时负责核酸代谢的酶存在缺陷,并会出现类似先天性巨细胞病毒脑感染的毁灭性白质异常。在某些情况下,常见感染先于疾病发作,提示免疫刺激可能是潜在触发因素。因此,人们积极研究抗病毒免疫反应,试图为病理机制提供线索,并为治疗方法的开发提供信息。动物模型对于解读人类健康和疾病中的生物学机制至关重要。有多种啮齿动物和斑马鱼模型可用于研究I型干扰素病,通过识别关键病理途径和细胞驱动因素,这些模型加深了我们对人类疾病的理解。然而,这些脊椎动物模型之间也出现了显著的表型差异,斑马鱼模型能够重现人类神经病理学的关键特征,而这些特征在啮齿动物模型中往往缺乏。在这篇综述中,我们比较了啮齿动物和斑马鱼模型,并总结了它们如何增进我们对艾卡迪-古铁雷斯综合征及类似疾病病理机制的理解。我们强调了关于实验室环境对免疫刺激影响的最新发现,以及这如何解释I型干扰素病小鼠和斑马鱼模型在病理严重程度上的差异。了解这些差异的产生方式将有助于改进动物疾病模型,以加速这些毁灭性儿童疾病治疗方法开发的进程。