Center for Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA.
Amherst College Class of 2013 Undergraduate Neuroscience Program, Amherst, MA, 01002, USA.
Trends Mol Med. 2014 Feb;20(2):91-104. doi: 10.1016/j.molmed.2013.11.004. Epub 2013 Dec 24.
The elucidation of disease etiologies and establishment of robust, scalable, high-throughput screening assays for autism spectrum disorders (ASDs) have been impeded by both inaccessibility of disease-relevant neuronal tissue and the genetic heterogeneity of the disorder. Neuronal cells derived from induced pluripotent stem cells (iPSCs) from autism patients may circumvent these obstacles and serve as relevant cell models. To date, derived cells are characterized and screened by assessing their neuronal phenotypes. These characterizations are often etiology-specific or lack reproducibility and stability. In this review, we present an overview of efforts to study iPSC-derived neurons as a model for autism, and we explore the plausibility of gene expression profiling as a reproducible and stable disease marker.
疾病病因的阐明以及自闭症谱系障碍 (ASD) 的强大、可扩展、高通量筛选检测方法的建立，一直受到疾病相关神经元组织不可及和该疾病遗传异质性的阻碍。源自自闭症患者诱导多能干细胞 (iPSC) 的神经元细胞可能会规避这些障碍，并作为相关细胞模型。迄今为止，通过评估其神经元表型来对衍生细胞进行特征描述和筛选。这些特征描述通常是病因特异性的，或者缺乏可重复性和稳定性。在这篇综述中，我们介绍了将 iPSC 衍生神经元作为自闭症模型进行研究的努力概述，并探讨了基因表达谱分析作为一种可重复和稳定的疾病标志物的可能性。
