Lunev Evgenii, Karan Anna, Egorova Tatiana, Bardina Maryana
Institute of Gene Biology, Russian Academy of Sciences, 119334 Moscow, Russia.
Marlin Biotech LLC, 354340 Sochi, Russia.
Biomedicines. 2022 May 15;10(5):1140. doi: 10.3390/biomedicines10051140.
Adeno-associated virus (AAV) vectors have become an attractive tool for efficient gene transfer into animal tissues. Extensively studied as the vehicles for therapeutic constructs in gene therapy, AAVs are also applied for creating animal models of human genetic disorders. Neurological disorders are challenging to model in laboratory animals by transgenesis or genome editing, at least partially due to the embryonic lethality and the timing of the disease onset. Therefore, gene transfer with AAV vectors provides a more flexible option for simulating genetic neurological disorders. Indeed, the design of the AAV expression construct allows the reproduction of various disease-causing mutations, and also drives neuron-specific expression. The natural and newly created AAV serotypes combined with various delivery routes enable differentially targeting neuronal cell types and brain areas in vivo. Moreover, the same viral vector can be used to reproduce the main features of the disorder in mice, rats, and large laboratory animals such as non-human primates. The current review demonstrates the general principles for the development and use of AAVs in modeling neurological diseases. The latest achievements in AAV-mediated modeling of the common (e.g., Alzheimer's disease, Parkinson's disease, ataxias, etc.) and ultra-rare disorders affecting the central nervous system are described. The use of AAVs to create multiple animal models of neurological disorders opens opportunities for studying their mechanisms, understanding the main pathological features, and testing therapeutic approaches.
腺相关病毒(AAV)载体已成为将基因高效导入动物组织的一种有吸引力的工具。作为基因治疗中治疗性构建体的载体,AAV已得到广泛研究,它还被用于创建人类遗传疾病的动物模型。通过转基因或基因组编辑在实验动物中模拟神经疾病具有挑战性,至少部分原因是胚胎致死性和疾病发病时间。因此,利用AAV载体进行基因转移为模拟遗传性神经疾病提供了更灵活的选择。事实上,AAV表达构建体的设计能够重现各种致病突变,还能驱动神经元特异性表达。天然和新创建的AAV血清型与各种递送途径相结合,能够在体内差异性地靶向神经元细胞类型和脑区。此外,同一病毒载体可用于在小鼠、大鼠以及非人类灵长类等大型实验动物中重现疾病的主要特征。本综述阐述了在神经疾病建模中开发和使用AAV的一般原则。描述了AAV介导的常见神经疾病(如阿尔茨海默病、帕金森病、共济失调等)以及影响中枢神经系统的超罕见疾病建模的最新成果。利用AAV创建多种神经疾病动物模型为研究其发病机制、了解主要病理特征以及测试治疗方法提供了机会。