Modeling psychiatric disorders: from genomic findings to cellular phenotypes.
Modeling psychiatric disorders: from genomic findings to cellular phenotypes.
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DOI：
10.1038/mp.2016.89
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发表时间：
2016-09
影响因子：
11
通讯作者：
Djurovic S
中科院分区：
文献类型：
--
作者：
Falk A;Heine VM;Harwood AJ;Sullivan PF;Peitz M;Brüstle O;Shen S;Sun YM;Glover JC;Posthuma D;Djurovic S
精神病学遗传学的主要项目已经确定了150个精神疾病的风险基因。这些基因座聚集在一小部分跨越传统诊断标准的功能通路上，这表明精神分裂症、自闭症和其他精神障碍背后存在部分共同的生物学基础。然而，捕捉精神障碍基本特征的细胞表型尚未确定。遗传学和干细胞生物学的最新进展为基于细胞的精神疾病建模提供了新的前景。细胞重编程和诱导多能干细胞(IPSC)的出现为将遗传发现转化为患者特有的体外模型提供了机会。IPSC技术诞生不到十年，但在弥合患者、遗传学和生物学之间的鸿沟方面大有可为。尽管有许多明显的优势，IPSC研究仍然面临着多重挑战。在这篇专家综述中，我们批判性地回顾了精神障碍建模的挑战，潜在的解决方案，以及如何使用IPSC技术来开发一个分析框架，用于评估和治疗基础疾病过程。
Major programs in psychiatric genetics have identified >150 risk loci for psychiatric disorders. These loci converge on a small number of functional pathways, which span conventional diagnostic criteria, suggesting a partly common biology underlying schizophrenia, autism and other psychiatric disorders. Nevertheless, the cellular phenotypes that capture the fundamental features of psychiatric disorders have not yet been determined. Recent advances in genetics and stem cell biology offer new prospects for cell-based modeling of psychiatric disorders. The advent of cell reprogramming and induced pluripotent stem cells (iPSC) provides an opportunity to translate genetic findings into patient-specific in vitro models. iPSC technology is less than a decade old but holds great promise for bridging the gaps between patients, genetics and biology. Despite many obvious advantages, iPSC studies still present multiple challenges. In this expert review, we critically review the challenges for modeling of psychiatric disorders, potential solutions and how iPSC technology can be used to develop an analytical framework for the evaluation and therapeutic manipulation of fundamental disease processes.
影响因子：
3.4
作者：
Martinez-Fernandez, Almudena;Nelson, Timothy J.;Terzic, Andre
通讯作者：
Terzic, Andre