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Enrichment and Correlation Analysis of Serum miRNAs in Comorbidity Between Arnold-Chiari and Tourette Syndrome Contribute to Clarify Their Molecular Bases
Frontiers in Molecular Neuroscience ( IF 4.8 ) Pub Date : 2020-12-04 , DOI: 10.3389/fnmol.2020.608355
Federica Mirabella , Mariangela Gulisano , Mara Capelli , Giovanni Lauretta , Matilde Cirnigliaro , Stefano Palmucci , Michele Stella , Davide Barbagallo , Cinzia Di Pietro , Michele Purrello , Marco Ragusa , Renata Rizzo

Due to its rarity, coupled to a multifactorial and very heterogeneous nature, the molecular etiology of Arnold-Chiari (AC) syndrome remains almost totally unknown. Its relationship with other neuropsychiatric disorders such as Tourette syndrome (TS) is also undetermined. The rare comorbid status between both disorders (ACTS) complicates the framework of diagnosis and negatively affects the patients' quality of life. In this exploratory study, we aimed to identify serum microRNA expression profiles as molecular fingerprints for AC, TS, and ACTS, by using a high-throughput approach. For this aim, 10 AC patients, 11 ACTS patients, 6 TS patients, and 8 unaffected controls (NC) were recruited. Nine miRNAs resulted significantly differentially expressed (DE): let-7b-5p (upregulated in ACTS vs. TS); miR-21-5p (upregulated in ACTS vs. AC; downregulated in AC vs. TS); miR-23a-3p (upregulated in TS vs. NCs; downregulated in AC vs. TS); miR-25-3p (upregulated in AC vs. TS and NCs; downregulated in ACTS vs. AC); miR-93-5p (upregulated in AC vs. TS); miR-130a-3p (downregulated in ACTS and TS vs. NCs); miR-144-3p (downregulated in ACTS vs. AC; upregulated in AC vs. TS); miR-222-3p (upregulated in ACTS vs. NCs); miR-451a (upregulated in AC vs. TS and NCs; in ACTS vs. NCs). Altered expression of miRNAs was statistically correlated to neuroimaging and neuropsychological anomalies. Furthermore, computational analyses indicated that DE miRNAs are involved in AC and TS pathomechanisms. Finally, we propose the dysregulation of the miRNA set as a potential molecular tool for supporting the current diagnosis of AC, TS, and ACTS by using liquid biopsies, in an unbiased and non-invasive way.



中文翻译:

血清miRNA在Arnold-Chiari和Tourette综合征合并症中的富集和相关性分析有助于阐明其分子基础

由于其稀有性,再加上多因素且非常异质的性质,Arnold-Chiari(AC)综合征的分子病因仍然几乎完全未知。它与诸如图雷特综合症(TS)之类的其他神经精神疾病的关系也不确定。两种疾病之间罕见的合并症(ACTS)使诊断框架复杂化,并对患者的生活质量产生负面影响。在这项探索性研究中,我们旨在通过使用高通量方法将血清microRNA表达谱鉴定为AC,TS和ACTS的分子指纹。为此,招募了10名AC患者,11名ACTS患者,6名TS患者和8名未受影响的对照(NC)。九个miRNA导致显着差异表达(DE):let-7b-5p(在ACTS与TS中上调);miR-21-5p(在ACTS与AC中上调;AC与TS下调);miR-23a-3p(在TS与NC中上调;在AC与TS中下调);miR-25-3p(在AC与TS和NC中上调;在ACTS与AC中下调);miR-93-5p(在AC和TS中上调);miR-130a-3p(在ACTS和TS与NCs中下调);miR-144-3p(在ACTS与AC中下调;在AC与TS中上调);miR-222-3p(在ACTS与NCs中上调);miR-451a(在AC与TS和NC中上调;在ACTS与NC中上调)。miRNA的表达改变与神经影像学和神经心理学异常有统计学相关性。此外,计算分析表明,DE miRNA参与了AC和TS的发病机制。最后,我们提出miRNA失调是一种潜在的分子工具,可通过使用液体活检以一种无偏见且非侵入性的方式来支持当前诊断AC,TS和ACTS。

更新日期:2021-01-05
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