mirnome profiling in duchenne muscular dystrophy; identification of asymptomatic and manifesting female carriers
Funding Number
38167
Funding Sponsor
Ministry of Scientific Research, Egypt
Find in your Library
https://doi.org/10.1042/BSR20211325
Document Type
Research Article
Publication Title
Bioscience Reports
Publication Date
9-1-2021
doi
10.1042/BSR20211325
Abstract
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.
Recommended Citation
APA Citation
Mousa, N.
Sayed, A.
Fahmy, N.
Elzayat, M.
...
(2021). mirnome profiling in duchenne muscular dystrophy; identification of asymptomatic and manifesting female carriers. Bioscience Reports, 41(9),
10.1042/BSR20211325
https://fount.aucegypt.edu/faculty_journal_articles/2697
MLA Citation
Mousa, Nahla O., et al.
"mirnome profiling in duchenne muscular dystrophy; identification of asymptomatic and manifesting female carriers." Bioscience Reports, vol. 41,no. 9, 2021,
https://fount.aucegypt.edu/faculty_journal_articles/2697