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miRNome profiling in Duchenne muscular dystrophy; identification of asymptomatic and manifesting female carriers

  • Mousa, Nahla O.1, 2
  • Sayed, Ahmed A.3, 4
  • Fahmy, Nagia5
  • Elzayat, Mariam G.3
  • Bakry, Usama3
  • Abdellatif, Ahmed6
  • Zahra, Waheed K.7, 8
  • Osman, Ahmed1, 4
  • 1 Biotechnology Department, Basic and Applied Sciences Institute, Egypt-Japan University of Science and Technology, Borg Al Arab 21934, Egypt
  • 2 Biotechnology Department, Faculty of Science, Cairo University, Giza 12613, Egypt
  • 3 Genomics Program, Children’s Cancer Hospital Egypt 57357, Cairo, Egypt
  • 4 Biochemistry Department, Faculty of Science, Ain Shams University, Cairo 11566, Egypt
  • 5 Neuromuscular Unit, Neuropsychiatry Department, Faculty of Medicine Ain Shams University, Cairo 11566, Egypt
  • 6 Biology Department, and Biotechnology program, School of Sciences and Engineering, The American University in Cairo, School of Sciences and Engineering, Cairo 11835, Egypt
  • 7 Mathematics Department, Basic and Applied Sciences Institute, Egypt-Japan University of Science and Technology, Borg Al Arab 21934, Egypt
  • 8 Physics and Engineering Mathematics Department,Faculty of Engineering, Tanta University, Tanta 31733, Egypt
Published Article
Bioscience Reports
Portland Press
Publication Date
Sep 17, 2021
DOI: 10.1042/BSR20211325
PMID: 34472584
PMCID: PMC8450315
PubMed Central
  • Research Articles


Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disorder that occurs due to inactivating mutations in DMD gene, leading to muscular dystrophy. Prediction of pathological complications of DMD and the identification of female carriers are important research points that aim to reduce disease burden. Herein, we describe a case of a late DMD patient and his immediate female family members, who all carry same DMD mutation and exhibited varied degrees of symptoms. In our study, we sequenced the whole miRNome in leukocytes and plasma of the family members and results were validated using real-time PCR. Our results highlighted the role of miR-409-3p, miR-424-5p, miR-144-3p as microRNAs that show correlation with the extent of severity of muscular weakness and can be used for detection of asymptomatic carriers. Cellular and circulating levels of miR-494-3p had shown significant increase in symptomatic carriers, which may indicate significant roles played by this miRNA in the onset of muscular weakness. Interestingly, circulating levels of miR-206 and miR-410-3p were significantly increased only in the severely symptomatic carrier. In conclusion, our study highlighted several miRNA species, which could be used in predicting the onset of muscle and/or neurological complications in DMD carriers.

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