Volume 21, Issue 7 (July 2023)                   IJRM 2023, 21(7): 567-576 | Back to browse issues page


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Mojodi E, Mosadegh Mehrjardi A, Naeimzadeh Y, Ghasemi N, Falahati A, Moshtaghioun S M. The sequence variation of mitochondrial tRNA tyrosine and cysteine among Iranian women with idiopathic recurrent miscarriage: A case-control study. IJRM 2023; 21 (7) :567-576
URL: http://ijrm.ir/article-1-2535-en.html
1- Department of Biology, Faculty of Science, Yazd University, Yazd, Iran.
2- Department of Traditional Pharmacy, Faculty of Traditional Medicine, Tehran University of Medical Sciences, Tehran, Iran.
3- Department of Molecular Medicine, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran.
4- Abortion Research Center, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
5- Department of Biology, Faculty of Science, Yazd University, Yazd, Iran. , moshtaghiun@yazd.ac.ir
Abstract:   (516 Views)
Background: Recurrent miscarriage is one of the most prevalent reproductive diseases. This phenomenon has several reasons, including maternal, hormonal, immunological, and parental genetic factors. Idiopathic recurrent miscarriage (IRM), with no distinctive etiology, involves about half of the recurrent miscarriage cases. Some mutations in mitochondrial DNA can lead to miscarriage. Mitochondrial tRNA (mt-tRNA) mutations cause nearly half of the mitochondrial disorders.
Objective: To identify mt- tRNACys & Tyr gene mutations in Iranian women with IRM.
Materials and Methods: In this case-control study, 100 Iranian women with IRM and 100 women as control without any history of miscarriage were investigated by polymerase chain reaction-single strand conformation polymorphism technique followed by gene sequencing. Bioinformatics analysis were done using human mitochondrial genome database, molecular evolutionary genetics analysis, mammalian mitochondrial-tRNA, etc.
Results: Results showed 4 mt-tRNA mutations including 1 cysteine mt-tRNA mutation (5824C>T) and 3 tyrosine mt-tRNA mutations (5868T>A, 5849C>T, and 5836T>C) in our cases.
Conclusion: Amongst the 4 mutations found, one was novel that is still not reported. Our bioinformatics analysis revealed that these mutations can be pathogenic. They occurred in tRNA-conserved regions and their secondary structure was changed, which can result in mitochondrial dysfunction. Mutations of these genes may help in the assessment of IRM. Further study of all 22 mt-tRNAs possible mutations is recommended to describe their etiologic role in IRM.

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Type of Study: Original Article | Subject: Reproductive Genetics

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