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Sci Rep：miRNA表达异常可用于识别丙酮酸血症的发生

2017-08-09 MedSci MedSci原创

丙酮酸血症miRNA
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丙酸酸血症（PA）是潜在致命的神经系统代谢疾病，患者长期患病发展为神经功能缺损和心肌病，以及其他并发症。本研究旨在使用PA小鼠模型和患者血浆样品中进行miRNome表达谱分析，以研究miRNA在疾病的病理生理学中的作用并鉴定新的生物标志物和治疗靶标。在PA小鼠肝脏中，我们确定了14个显著失调的miRNA。在脑和心脏组织中发现三种选择的miRNAs，miR-34a-5p，miR-338-3p和miR

丙酸酸血症（PA）是潜在致命的神经系统代谢疾病，患者长期患病发展为神经功能缺损和心肌病，以及其他并发症。本研究旨在使用PA小鼠模型和患者血浆样品中进行miRNome表达谱分析，以研究miRNA在疾病的病理生理学中的作用并鉴定新的生物标志物和治疗靶标。

在PA小鼠肝脏中，我们确定了14个显著失调的miRNA。在脑和心脏组织中发现三种选择的miRNAs，miR-34a-5p，miR-338-3p和miR-350表达升高。涉及凋亡，应激信号和线粒体功能的预测目标被逆向下调。miRNA模拟物在细胞模型中的功能分析证实了这些发现。来自新生儿PA患者和年龄匹配的对照个体血浆样品中的miRNA谱分析鉴定出一组差异表达的miRNA，其中几个与PA小鼠中鉴定的miRNA一致，其中有miR-34a-5p和miR-338-3p。这两种miRNA在儿童和成人PA患者的群组中也被发现失调。

总而言之，结果揭示了PA中miRNA的特征有助于识别潜在的生物标志物，提高对这种罕见疾病的分子机制的理解，最终改善患者的管理。

原始出处：

Ana Rivera-Barahona, Alejandro Fulgencio-Covián, et al., Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic academia. Sci Rep. 2017; 7: 5727. Published online 2017 Jul 18. doi:  10.1038/s41598-017-06420-8.

评论区 (3)
#插入话题
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    2018-04-30 小小小向日葵

    #RNA表达#

    0

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    2018-06-02 smallant2002

    #miR#

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  3. [GetPortalCommentsPageByObjectIdResponse(id=1793429, encodeId=d6191e934290b, content=<a href='/topic/show?id=d96c155e526' target=_blank style='color:#2F92EE;'>#RNA表达#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=111, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=15575, encryptionId=d96c155e526, topicName=RNA表达)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=72bf2500198, createdName=小小小向日葵, createdTime=Mon Apr 30 09:24:00 CST 2018, time=2018-04-30, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1930496, encodeId=83f819304969e, content=<a href='/topic/show?id=22f61180211' target=_blank style='color:#2F92EE;'>#miR#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=70, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=11802, encryptionId=22f61180211, topicName=miR)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=0a27288, createdName=smallant2002, createdTime=Sat Jun 02 20:24:00 CST 2018, time=2018-06-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1312307, encodeId=b2b3131230e57, content=<a href='/topic/show?id=e5571193321' target=_blank style='color:#2F92EE;'>#miRNA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=80, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=11933, encryptionId=e5571193321, topicName=miRNA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=e87d405, createdName=Homburg, createdTime=Fri Aug 11 12:24:00 CST 2017, time=2017-08-11, status=1, ipAttribution=)]
    2017-08-11 Homburg

    #miRNA#

    0