The sequence variation of mitochondrial tRNA tyrosine and cysteine among Iranian women with idiopathic recurrent miscarriage: A case-control study

Abstract 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...

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Main Authors: Elham Mojodi, Alimohammad Mosadegh Mehrjardi, Yasaman Naeimzadeh, Nasrin Ghasemi, Ali Falahati, Seyed Mohammad Moshtaghioun
Format: Article
Language:English
Published: Shahid Sadoughi University of Medical Sciences 2023-08-01
Series:International Journal of Reproductive BioMedicine
Subjects:
Online Access:https://doi.org/10.18502/ijrm.v21i7.13894
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author Elham Mojodi
Alimohammad Mosadegh Mehrjardi
Yasaman Naeimzadeh
Nasrin Ghasemi
Ali Falahati
Seyed Mohammad Moshtaghioun
author_facet Elham Mojodi
Alimohammad Mosadegh Mehrjardi
Yasaman Naeimzadeh
Nasrin Ghasemi
Ali Falahati
Seyed Mohammad Moshtaghioun
author_sort Elham Mojodi
collection DOAJ
description Abstract 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- tRNA C y s & T y r 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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spelling doaj.art-0609dcc209484776b9a858f16ab1fc2b2023-09-12T08:08:51ZengShahid Sadoughi University of Medical SciencesInternational Journal of Reproductive BioMedicine2476-41082476-37722023-08-0121756757610.18502/ijrm.v21i7.13894ijrm.v21i7.13894The sequence variation of mitochondrial tRNA tyrosine and cysteine among Iranian women with idiopathic recurrent miscarriage: A case-control studyElham Mojodi0Alimohammad Mosadegh Mehrjardi1Yasaman Naeimzadeh2Nasrin Ghasemi3Ali Falahati4Seyed Mohammad Moshtaghioun5 Department of Biology, Faculty of Science, Yazd University, Yazd, Iran. Department of Traditional Pharmacy, Faculty of Traditional Medicine, Tehran University of Medical Sciences, Tehran, Iran. Department of Molecular Medicine, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran. Abortion Research Center, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran. Department of Biology, Faculty of Science, Yazd University, Yazd, Iran. Department of Biology, Faculty of Science, Yazd University, Yazd, Iran.Abstract 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- tRNA C y s & T y r 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.https://doi.org/10.18502/ijrm.v21i7.13894recurrent early pregnancy loss, mtdna, snps, heteroplasmy.
spellingShingle Elham Mojodi
Alimohammad Mosadegh Mehrjardi
Yasaman Naeimzadeh
Nasrin Ghasemi
Ali Falahati
Seyed Mohammad Moshtaghioun
The sequence variation of mitochondrial tRNA tyrosine and cysteine among Iranian women with idiopathic recurrent miscarriage: A case-control study
International Journal of Reproductive BioMedicine
recurrent early pregnancy loss, mtdna, snps, heteroplasmy.
title The sequence variation of mitochondrial tRNA tyrosine and cysteine among Iranian women with idiopathic recurrent miscarriage: A case-control study
title_full The sequence variation of mitochondrial tRNA tyrosine and cysteine among Iranian women with idiopathic recurrent miscarriage: A case-control study
title_fullStr The sequence variation of mitochondrial tRNA tyrosine and cysteine among Iranian women with idiopathic recurrent miscarriage: A case-control study
title_full_unstemmed The sequence variation of mitochondrial tRNA tyrosine and cysteine among Iranian women with idiopathic recurrent miscarriage: A case-control study
title_short The sequence variation of mitochondrial tRNA tyrosine and cysteine among Iranian women with idiopathic recurrent miscarriage: A case-control study
title_sort sequence variation of mitochondrial trna tyrosine and cysteine among iranian women with idiopathic recurrent miscarriage a case control study
topic recurrent early pregnancy loss, mtdna, snps, heteroplasmy.
url https://doi.org/10.18502/ijrm.v21i7.13894
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