Villa Chiara, Combi Romina, Conconi Donatella, Lavitrano Marialuisa
School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy.
Pharmaceutics. 2021 Feb 19;13(2):280. doi: 10.3390/pharmaceutics13020280.
Autism spectrum disorder (ASD) represents a group of neurodevelopmental diseases characterized by persistent deficits in social communication, interaction, and repetitive patterns of behaviors, interests, and activities. The etiopathogenesis is multifactorial with complex interactions between genetic and environmental factors. The clinical heterogeneity and complex etiology of this pediatric disorder have limited the development of pharmacological therapies. The major limit to ASD research remains a lack of relevant human disease models which can faithfully recapitulate key features of the human pathology and represent its genetic heterogeneity. Recent advances in induced pluripotent stem cells (iPSCs), reprogrammed from somatic cells of patients into all types of patient-specific neural cells, have provided a promising cellular tool for disease modeling and development of novel drug treatments. The iPSCs technology allowed not only a better investigation of the disease etiopathogenesis but also opened up the potential for personalized therapies and offered new opportunities for drug discovery, pharmacological screening, and toxicity assessment. Moreover, iPSCs can be differentiated and organized into three-dimensional (3D) organoids, providing a model which mimics the complexity of the brain's architecture and more accurately recapitulates tissue- and organ-level disease pathophysiology. The aims of this review were to describe the current state of the art of the use of human patient-derived iPSCs and brain organoids in modeling ASD and developing novel therapeutic strategies and to discuss the opportunities and major challenges in this rapidly moving field.
自闭症谱系障碍(ASD)是一组神经发育疾病,其特征是社交沟通、互动以及行为、兴趣和活动的重复模式存在持续缺陷。其发病机制是多因素的,遗传和环境因素之间存在复杂的相互作用。这种儿科疾病的临床异质性和复杂病因限制了药物治疗的发展。ASD研究的主要局限仍然是缺乏相关的人类疾病模型,这些模型能够如实地概括人类病理学的关键特征并体现其遗传异质性。诱导多能干细胞(iPSC)是从患者的体细胞重编程而来,可分化为所有类型的患者特异性神经细胞,其研究进展为疾病建模和新型药物治疗的开发提供了一种有前景的细胞工具。iPSC技术不仅有助于更好地研究疾病发病机制,还为个性化治疗开辟了潜力,并为药物发现、药理筛选和毒性评估提供了新机会。此外,iPSC可以分化并组织成三维(3D)类器官,提供一个模拟大脑结构复杂性并更准确地概括组织和器官水平疾病病理生理学的模型。本综述的目的是描述使用人类患者来源的iPSC和脑类器官进行ASD建模及开发新型治疗策略的当前技术水平,并讨论这一快速发展领域中的机遇和主要挑战。