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No mitochondrial DNA deletions but more D-loop point mutations in repeated pregnancy loss

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

Repeated pregnancy loss (RPL) occurs in 1 out of 300 couples, and the cause of about 50% of them remains idiopathic. Mitochondria have an important role in human development through ATP production and their involvement in apoptosis.

Methods

96 RPL and 96 control females were used to investigate the frequency of deletions and point mutations in the displacement loop (D-loop) on mitochondria. Multiplex PCR and DNA sequencing methods were used to detect possible variations in the mitochondrial DNA (mtDNA).

Results

No deletions but a high frequency of point mutations were found in RPL females; among 129 variations observed in RPL, 22 mutations were significant (P < 0.05) and the insertion of C in nucleotide 114 was novel.

Conclusion

High rate of mutations in D-loop of mtDNA was observed in maternal blood, a fact that may have a direct or indirect role in inducing RPL. The results can be used in the assessment of RPL and designing possible treatments for improving assisted reproduction.

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Acknowledgements

This study is supported by the National Institute of Genetic Engineering and Biotechnology, Tehran, Iran; and Research and Clinical Center for Infertility of Shahid Sadughi University of Medical Science, Yazd, Iran

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Authors and Affiliations

  1. National Institute of Genetic Engineering and Biotechnology, Tehran, Iran

    Seyed Mohammad Seyedhassani, Massoud Houshmand & Glayol Modabber

  2. Research and Clinical Center for Infertility, Shahid Sadughi University of Medical Science, Yazd, Iran

    Seyed Mohammad Seyedhassani, Seyed Mehdi Kalantar & Abbas Aflatoonian

  3. Medical Genetic Department, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran

    Massoud Houshmand

Authors
  1. Seyed Mohammad Seyedhassani
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  2. Massoud Houshmand
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  3. Seyed Mehdi Kalantar
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  4. Glayol Modabber
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  5. Abbas Aflatoonian
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Corresponding author

Correspondence to Massoud Houshmand.

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Capsule

No deletions but a high rate of D-loop point mutations were observed in mtDNA of RPL women. This condition may have a role in inducing RPL.

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Seyedhassani, S.M., Houshmand, M., Kalantar, S.M. et al. No mitochondrial DNA deletions but more D-loop point mutations in repeated pregnancy loss. J Assist Reprod Genet 27, 641–648 (2010). https://doi.org/10.1007/s10815-010-9435-2

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  • DOI: https://doi.org/10.1007/s10815-010-9435-2

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