Objective

Numerous studies have been carried out to identify the role of microRNA (miRNA) as potential biomarkers for many diseases including amyotrophic lateral sclerosis (ALS).

The aim of this study was to explore the circulating levels of some miRNAs in cohort of Egyptian ALS patients in an attempt to correlate the selected miRNA profiles with disease progression.

Methods

Thirty ALS patients and 20 age and sex matched healthy controls were enrolled. Circulating miRNA levels were determined in venous blood samples, collected on EDTA, from all the study subjects. The selection of miRNA species (miR-206, miR-142-3p, miR-143-3p, miR-181a-5p, miR-106b-3p, miR-4516 and Let7f-5p) was based on their involvement in the pathophysiology of ALS and was further confirmed by data mining of specific miRNA databases (miRBase and miRDB).

Results

As compared to the control group, significant consistent upregulation was found in the levels of miR-206, miR-143-3p and to a lesser extent in miR-142-3p. An elevation trend, although not significant, was also found in the levels of miR-181a-5p, miR-106b-3p, and miR-4516. Interestingly, we found that the levels of miR-142-3p were elevated in familial cases, while that of miR-4516 were significantly increased in sporadic cases. Furthermore, the levels of Let7f-5p, although were generally lowered in ALS patients but were also decreased in familial cases as well as in spinal onset ALS as compared to bulbar onset.

Conclusion

This is the first study investigating miRNA profiles in Egyptian ALS patients. We found that some miRNAs are significantly altered in ALS patients, and some may be used to distinguish familial and sporadic cases and bulbar and spinal onset. Larger study is needed, in which we will conduct a correlation of miRNA levels against variations in disease onset, progression as well as systemic inflammatory responses and the extent of neuromuscular involvement in Egyptian ALS patients in an attempt to identify environmental/occupational risk factors.

中文翻译：

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一项埃及研究评估肌萎缩侧索硬化症患者中某些循环 microRNA 的诊断潜力

客观的

已经进行了大量研究来确定 microRNA (miRNA) 作为包括肌萎缩侧索硬化症 (ALS) 在内的许多疾病的潜在生物标志物的作用。

本研究的目的是探索埃及 ALS 患者队列中一些 miRNA 的循环水平，以试图将选定的 miRNA 谱与疾病进展相关联。

方法

招募了 30 名 ALS 患者和 20 名年龄和性别匹配的健康对照。在所有研究对象的静脉血样本中测定循环 miRNA 水平，这些样本是用 EDTA 收集的。miRNA 种类（miR-206、miR-142-3p、miR-143-3p、miR-181a-5p、miR-106b-3p、miR-4516 和 Let7f-5p）的选择是基于它们在病理生理学中的参与ALS 并通过特定 miRNA 数据库（miRBase 和 miRDB）的数据挖掘进一步证实。

结果

与对照组相比，在 miR-206、miR-143-3p 的水平中发现了显着一致的上调，而在 miR-142-3p 中的上调程度较小。在 miR-181a-5p、miR-106b-3p 和 miR-4516 的水平中也发现了升高趋势，尽管不显着。有趣的是，我们发现 miR-142-3p 的水平在家族性病例中升高，而 miR-4516 的水平在散发病例中显着升高。此外，虽然在 ALS 患者中 Let7f-5p 的水平普遍降低，但与延髓发病相比，在家族病例以及脊柱发病的 ALS 中也有所降低。

结论

这是第一项调查埃及 ALS 患者 miRNA 谱的研究。我们发现一些 miRNA 在 ALS 患者中发生了显着改变，有些可用于区分家族性和散发性病例以及延髓和脊柱发病。需要进行更大规模的研究，我们将在其中将 miRNA 水平与疾病发作、进展以及全身炎症反应的变化以及埃及 ALS 患者的神经肌肉参与程度进行关联，以试图确定环境/职业风险因素。