Pediatric Research Institute, Qilu Children's Hospital, Cheeloo College of Medicine, Shandong University, Ji'nan 250022, China.
Jinan Pediatric Research Institute, Jinan Children's Hospital, Ji'nan 250022, China.
Int J Med Sci. 2021 Jan 1;18(2):459-473. doi: 10.7150/ijms.51842. eCollection 2021.
Somatic cells such as skin fibroblasts, umbilical cord blood, peripheral blood, urinary epithelial cells, etc., are transformed into induced pluripotent stem cells (iPSCs) by reprogramming technology, a milestone in the stem-cell research field. IPSCs are similar to embryonic stem cells (ESCs), exhibiting the potential to differentiate into various somatic cells. Still, the former avoid problems of immune rejection and medical ethics in the study of ESCs and clinical trials. Neurodevelopmental disorders are chronic developmental brain dysfunctions that affect cognition, exercise, social adaptability, behavior, etc. Due to various inherited or acquired causes, they seriously affect the physical and psychological health of infants and children. These include generalized stunting / mental disability (GDD/ID), Epilepsy, autism spectrum disease (ASD), and attention deficit hyperactivity disorder (ADHD). Most neurodevelopmental disorders are challenging to cure. Establishing a neurodevelopmental disorder system model is essential for researching and treating neurodevelopmental disorders. At this stage, the scarcity of samples is a bigger problem for studying neurological diseases based on the donor, ethics, etc. Some iPSCs are reprogrammed from somatic cells that carry disease-causing mutations. They differentiate into nerve cells by induction, which has the original characteristics of diseases. Disease-specific iPSCs are used to study the mechanism and pathogenesis of neurodevelopmental disorders. The process provided samples and the impetus for developing drugs and developing treatment plans for neurodevelopmental disorders. Here, this article mainly introduced the development of iPSCs, the currently established iPSCs disease models, and artificial organoids related to neurodevelopmental impairments. This technology will promote our understanding of neurodevelopmental impairments and bring great expectations to children with neurological disorders.
体细胞（如皮肤成纤维细胞、脐带血、外周血、尿上皮细胞等）通过重编程技术被转化为诱导多能干细胞（iPSCs），这是干细胞研究领域的一个里程碑。iPSCs 类似于胚胎干细胞（ESCs），具有分化为各种体细胞的潜力。然而，前者避免了 ESCs 研究和临床试验中免疫排斥和医学伦理方面的问题。神经发育障碍是影响认知、运动、社会适应性、行为等的慢性发育性脑功能障碍。由于各种遗传或获得性原因，它们严重影响婴儿和儿童的身心健康。这些疾病包括全面发育迟缓/智力障碍（GDD/ID）、癫痫、自闭症谱系障碍（ASD）和注意缺陷多动障碍（ADHD）。大多数神经发育障碍难以治愈。建立神经发育障碍系统模型对于研究和治疗神经发育障碍至关重要。在现阶段，由于供体、伦理等原因，基于捐献者的神经疾病研究中样本的稀缺性是一个更大的问题。一些 iPSCs 是由携带致病突变的体细胞重编程而来的。通过诱导它们分化为神经细胞，这些细胞具有疾病的原始特征。疾病特异性 iPSCs 可用于研究神经发育障碍的机制和发病机制。该过程提供了样本，并为神经发育障碍的药物研发和治疗方案的制定提供了动力。本文主要介绍了 iPSCs 的发展、目前建立的 iPSCs 疾病模型以及与神经发育障碍相关的人工类器官。这项技术将促进我们对神经发育障碍的理解，并为患有神经疾病的儿童带来巨大的期望。
