利用干细胞建立雷特综合征模型。
Modeling Rett syndrome with stem cells.
机构信息
Howard Hughes Medical Institute at Massachusetts General Hospital, Center for Regenerative Medicine and Cancer Center, Boston, MA 02114, USA.
出版信息
Cell. 2010 Nov 12;143(4):499-500. doi: 10.1016/j.cell.2010.10.037.
Abstract
The discovery that somatic cells can be reprogrammed into induced pluripotent stem cells (iPSCs) raised the exciting possibility of modeling diseases with patient-specific cells. Marchetto et al. (2010) now use iPSC technology to generate, characterize, and treat an in vitro model for the autism spectrum disorder Rett syndrome.
摘要
体细胞可以被重编程为诱导多能干细胞(iPSCs)这一发现，为使用患者特异性细胞来模拟疾病提供了令人兴奋的可能性。Marchetto 等人（2010 年）现在使用 iPSC 技术生成、表征和治疗自闭症谱系障碍雷特综合征的体外模型。
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Female human iPSCs retain an inactive X chromosome.女性人类诱导多能干细胞保留一条失活的 X 染色体。
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Rett syndrome: model of neurodevelopmental disorders.雷特综合征：神经发育障碍模型。
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Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice.中枢神经系统神经元中甲基化CpG结合蛋白2的缺乏会导致小鼠出现类似瑞特综合征的表型。
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A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome.小鼠Mecp2基因无效突变会引发类似雷特综合征的神经症状。
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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.瑞特综合征由X连锁的MECP2基因突变引起，该基因编码甲基CpG结合蛋白2。
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