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汉族人群中脑特异性自闭症相关微小RNA的表达改变

Altered Expression of Brain-specific Autism-Associated miRNAs in the Han Chinese Population.

作者信息

Wang Ziqi, Lu Tianlan, Li Xianjing, Jiang Miaomiao, Jia Meixiang, Liu Jing, Zhang Dai, Li Jun, Wang Lifang

机构信息

National Clinical Research Center for Mental Disorders (Peking University Sixth Hospital), NHC Key Laboratory of Mental Health (Peking University), Peking University Sixth Hospital, Peking University Institute of Mental Health, Beijing, China.

Chinese Institute for Brain Research, Beijing, China.

出版信息

Front Genet. 2022 Mar 7;13:865881. doi: 10.3389/fgene.2022.865881. eCollection 2022.

Abstract

Autism is a complex neurodevelopmental disorder. However, its etiology is still unknown. MicroRNAs (miRNAs) are key post-transcriptional regulators. They play an important role in neurodevelopment and brain functions and may be involved in the pathogenesis of autism. Previous studies indicated altered expression of miRNAs in patients with autism. However, the findings were not consistent, and further explorations were needed. This study aimed to investigate whether miRNAs were dysregulated in autism. We examined the expression of 30 brain-specific autism-associated miRNAs in 110 patients with autism and 113 controls in the Han Chinese population using quantitative reverse transcription-polymerase chain reaction. The results demonstrated that 10 miRNAs (hsa-miR-191-5p, hsa-miR-151a-3p, hsa-miR-139-5p, hsa-miR-181a-5p, hsa-miR-432-5p, hsa-miR-181b-5p, hsa-miR-195-5p, hsa-miR-328-3p, hsa-miR-106a-5p, and hsa-miR-484) were significantly differentially expressed (false discovery rate <0.05). All of them were up-regulated in patients with autism compared with controls. The targets of these miRNAs were enriched for genes and pathways related to neurodevelopment, brain functions and autism. These findings suggested the participation of these 10 miRNAs in the pathogenesis of autism in the Han Chinese population.

摘要

自闭症是一种复杂的神经发育障碍。然而,其病因仍不清楚。微小RNA(miRNA)是关键的转录后调节因子。它们在神经发育和脑功能中发挥重要作用,可能参与自闭症的发病机制。先前的研究表明自闭症患者中miRNA表达发生改变。然而,研究结果并不一致,需要进一步探索。本研究旨在调查自闭症中miRNA是否失调。我们使用定量逆转录-聚合酶链反应检测了110例汉族自闭症患者和113例对照中30种脑特异性自闭症相关miRNA的表达。结果表明,10种miRNA(hsa-miR-191-5p、hsa-miR-151a-3p、hsa-miR-139-5p、hsa-miR-181a-5p、hsa-miR-432-5p、hsa-miR-181b-5p、hsa-miR-195-5p、hsa-miR-328-3p、hsa-miR-106a-5p和hsa-miR-484)有显著差异表达(错误发现率<0.05)。与对照组相比,所有这些miRNA在自闭症患者中均上调。这些miRNA的靶基因富集了与神经发育、脑功能和自闭症相关的基因和通路。这些发现提示这10种miRNA参与了汉族人群自闭症的发病机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/474c/8942769/0182d7a2072a/fgene-13-865881-g001.jpg

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