协和医学杂志

2018, v.9(03) 261-270

[打印本页] [关闭]
本期目录(Current Issue) | 过刊浏览(Past Issue) | 高级检索(Advanced Search)

基于诱导多能干细胞技术的罕见病细胞模型及其应用
Models of Rare Diseases Based on Induced Pluripotent Stem Cells and Their Applications

时良;崔亚洲;韩金祥;
SHI Liang;CUI Ya-zhou;HAN Jin-xiang;Shandong Medical Biotechnological Center,Shandong Academy of Medical Science;Shandong Province Rare Disease Association;

摘要(Abstract):

罕见病的研究受限于样本的可获得性,对其发病机制了解甚少阻碍了罕见病可行性治疗方法的发现。随着诱导多能干细胞(induced pluripotent stem cells,i PSCs)技术的建立和日趋成熟,越来越多的研究开始利用i PSCs技术把患者来源的体细胞转变为i PSCs,继而再分化为疾病相关的成体细胞。通过对发病过程和功能学分析,患者特异性i PSCs细胞模型已成为罕见病研究的宝贵工具。i PSCs技术彻底革新了研究者对罕见病发病机制和治疗方法的研究,尤其是i PSCs技术结合基因编辑和3D类器官方法,使得i PSCs在各应用领域包括精准医学领域更具强大优势。本文概括介绍i PSCs技术应用于多种罕见病疾病模型建立,以及在此基础上进行药物筛选和细胞治疗,以期为罕见病研究者提供新的思路和启示。
Research on rare diseases is limited by the poor availability of samples. Therefore,treatment of rare diseases is hampered by insufficient understanding of the mechanisms and resultant underdevelopment of viable therapies. With the advent and development of the technology of induced pluripotent stem cells( i PSCs) in recent years,more and more studies have begun to reprogram somatic cells derived from patients into i PSCs,which then differentiate into cells affected by the disease. Through developmental and functional analysis of the differentiated cell types,these stem cell models carrying patient-specific mutations have become an invaluable tool for research on rare diseases. i PSCs technology has revolutionized the ways of exploring the mechanisms of human rare diseases and developing therapies. In particular,the combination of human i PSCs technology with recent development in gene editing and 3 D organoids makes i PSC-based platforms even more powerful in each area of their applications,including precision medicine. This review overviews recent advance in human i PSC-based modeling of rare diseases. Additionally,we outline the application of i PSCs technology particularly relevant to drug screening and cell therapy,so as to provide new inspiration for researchers.

关键词(KeyWords): 罕见病;诱导多能干细胞;细胞模型;药物筛选
rare diseases;induced pluripotent stem cells;cell diseases;drug screening

Abstract:

Keywords:

基金项目(Foundation):

作者(Authors): 时良;崔亚洲;韩金祥;
SHI Liang;CUI Ya-zhou;HAN Jin-xiang;Shandong Medical Biotechnological Center,Shandong Academy of Medical Science;Shandong Province Rare Disease Association;

参考文献(References):

扩展功能
本文信息
服务与反馈
本文关键词相关文章
本文作者相关文章
中国知网
分享