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

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作者
Maryam Sotoudeh Anvari
Hamed Vasei
Hossein Najmabadi
Reza Shervin Badv
Akram Golipour
Samira Mohammadi-Yeganeh
Saeede Salehi
Mahmood Mohamadi
Hamidreza Goodarzynejad
Seyed Javad Mowla
机构
[1] Tehran University of Medical Sciences,Department of Molecular Pathology, School of Medicine, Children’s Medical Center, Pediatrics Center of Excellence
[2] Sharif University of Technology,Department of Mathematical Science
[3] The University of Social Welfare and Rehabilitation Sciences,Department of Genetics, School of Rehabilitation Sciences, Genetic Research Center
[4] Tehran University of Medical Sciences,Department of Pediatrics, School of Medicine, Children’s Medical Center, Pediatrics Center of Excellence
[5] Islamic Azad University,Department of Biology, Science and Research Branch
[6] Shahid Beheshti University of Medical Sciences,Medical Nanotechnology and Tissue Engineering Research Center
[7] Shahid Beheshti University of Medical Sciences,Department of Medical Biotechnology, School of Advanced Technologies in Medicine
[8] Tehran University of Medical Sciences,Cell
[9] Tehran University of Medical Sciences,Based Therapies Research Center, Digestive Diseases Research Institute, Shariati Hospital
[10] Tarbiat Modares University,Department of Basic and Clinical Research, Tehran Heart Center
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Scientific Reports | / 12卷
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摘要
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.
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