Assessment of diagnostic potential of some circulating microRNAs in Amyotrophic Lateral Sclerosis Patients, an Egyptian study

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.

Automated summary

This study found that certain miRNAs are significantly altered in ALS patients, which can be used to distinguish between familial and sporadic cases as well as bulbar and spinal onset. Larger studies are needed to further investigate the correlation between miRNA levels and disease progression, inflammatory responses, and neuromuscular involvement in Egyptian ALS patients in order to identify potential environmental or occupational risk factors.