Identification of microRNAs associated with human fragile X syndrome using next-generation sequencing

Abstract Fragile X syndrome (FXS) is caused by a mutation in the FMR1 gene which can lead to a loss or shortage of the FMR1 protein. This protein interacts with specific miRNAs and can cause a range of neurological disorders. Therefore, miRNAs could act as a novel class of biomarkers for common CNS diseases. This study aimed to test this theory by exploring the expression profiles of various miRNAs in Iranian using deep sequencing-based technologies and validating the miRNAs affecting the expression of the FMR1 gene. Blood samples were taken from 15 patients with FXS (9 males, 6 females) and 12 controls. 25 miRNAs were differentially expressed in individuals with FXS compared to controls. Levels of 9 miRNAs were found to be significantly changed (3 upregulated and 6 downregulated). In Patients, the levels of hsa-miR-532-5p, hsa-miR-652-3p and hsa-miR-4797-3p were significantly upregulated while levels of hsa-miR-191-5p, hsa-miR-181-5p, hsa-miR-26a-5p, hsa-miR-30e-5p, hsa-miR-186-5p, and hsa-miR-4797-5p exhibited significant downregulation; and these dysregulations were confirmed by RT‐qPCR. This study presents among the first evidence of altered miRNA expression in blood samples from patients with FXS, which could be used for diagnostic, prognostic, and treatment purposes. Larger studies are required to confirm these preliminary results.

Abstract licence: CC BY-NC-ND

1. 2.

   Protocol: a highly sensitive RT-PCR method for detection and quantification of microRNAs · 2007

2. 28.

   MicroRNA: Biogenesis, Function and Role in Cancer · 2010

3. 30.

   Serum microRNA profiles in children with autism · 2014

4. 33.

   microRNA expression in the prefrontal cortex of individuals with schizophrenia and schizoaffective disorder · 2007

5. 42.

   Updated report on tools to measure outcomes of clinical trials in fragile X syndrome · 2017

6. 44.

   MicroRNA-30e regulates neuroinflammation in MPTP model of Parkinson’s disease by targeting Nlrp3 · 2017

7. 46.

   miR-30 Family: A Promising Regulator in Development and Disease · 2018

8. 51.

   A practical guide to methods controlling false discoveries in computational biology · 2019

9. 54.

   U1 snRNP regulates cancer cell migration and invasion in vitro · 2020

10. 59.

    Inflammasome activation and regulation: toward a better understanding of complex mechanisms · 2020

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