Department of Microbiology, Institute of Biomedical Sciences, University of São Paulo, SP, Brazil.
Department of Microbiology, Institute of Biomedical Sciences, University of São Paulo, SP, Brazil; Department of Obstetrics, School of Arts Sciences and Humanities, São Paulo, SP 03828-000, Brazil.
Neurobiol Dis. 2019 Oct;130:104483. doi: 10.1016/j.nbd.2019.104483. Epub 2019 May 24.
Autism Spectrum Disorders (ASDs) are a group of neurodevelopmental disorders that influence social skills, involving communication, interaction, and behavior, usually with repetitive and restrictive manners. Due to the variety of genes involved in ASDs and several possible environmental factors influence, there is still no answer to what really causes syndromic and non-syndromic types of ASDs, usually affecting each individual in a unique way. However, we know that the mechanism underlying ASDs involves brain functioning. The human brain is a complex structure composed of close to 100 billion cells, which is a big challenge to study counting just with post mortem tissue investigation or genetic approaches. Therefore, human induced pluripotent stem cells (iPSC) technology has been used as a tool to produce viable cells for understanding a working brain. Taking advantage of patient-derived stem cells, researchers are now able to generate neurons, glial cells and brain organoids in vitro to model ASDs. In this review we report data from different studies showing how iPSCs have been a critical tool to study the different phenotypes of ASDs.
自闭症谱系障碍（ASD）是一组神经发育障碍，影响社交技能，包括沟通、互动和行为，通常表现出重复和受限的方式。由于涉及 ASD 的基因种类繁多，并且有几种可能的环境因素影响，因此仍然无法回答是什么真正导致了综合征和非综合征类型的 ASD，通常以独特的方式影响每个个体。然而，我们知道 ASD 的发病机制涉及大脑功能。人类大脑是一个由近 1000 亿个细胞组成的复杂结构，仅通过死后组织研究或遗传方法进行计数就是一个巨大的挑战。因此，人类诱导多能干细胞（iPSC）技术已被用作生产可行细胞的工具，以了解正常工作的大脑。利用患者来源的干细胞，研究人员现在能够在体外生成神经元、神经胶质细胞和脑类器官，以模拟 ASD。在这篇综述中，我们报告了来自不同研究的数据，展示了 iPSC 如何成为研究 ASD 不同表型的关键工具。
