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Ambulkar PS, Waghmare JE, Chaudhari AR, et al. Large Scale 7436-bp Deletions in Human Sperm Mitochondrial DNA with Spermatozoa Dysfunction and Male Infertility. J Clin Diagn Res. 2016;10(11):GC09-GC12doi: 10.7860/JCDR/2016/22412.8843.
Ambulkar, P. S., Waghmare, J. E., Chaudhari, A. R., Wankhede, V. R., Tarnekar, A. M., Shende, M. R., & Pal, A. K. (2016). Large Scale 7436-bp Deletions in Human Sperm Mitochondrial DNA with Spermatozoa Dysfunction and Male Infertility. Journal of clinical and diagnostic research : JCDR, 10(11), GC09-GC12. https://doi.org/10.7860/JCDR/2016/22412.8843
Ambulkar, Prafulla S, et al. "Large Scale 7436-bp Deletions in Human Sperm Mitochondrial DNA with Spermatozoa Dysfunction and Male Infertility." Journal of clinical and diagnostic research : JCDR vol. 10,11 (2016): GC09-GC12. doi: https://doi.org/10.7860/JCDR/2016/22412.8843
Ambulkar PS, Waghmare JE, Chaudhari AR, Wankhede VR, Tarnekar AM, Shende MR, Pal AK. Large Scale 7436-bp Deletions in Human Sperm Mitochondrial DNA with Spermatozoa Dysfunction and Male Infertility. J Clin Diagn Res. 2016 Nov;10(11):GC09-GC12. doi: 10.7860/JCDR/2016/22412.8843. Epub 2016 Nov 01. PMID: 28050401; PMCID: PMC5198354.
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J Clin Diagn Res. 2016 Nov;10(11):GC09-GC12. doi: 10.7860/JCDR/2016/22412.8843. Epub 2016 Nov 01.

Large Scale 7436-bp Deletions in Human Sperm Mitochondrial DNA with Spermatozoa Dysfunction and Male Infertility.

Journal of clinical and diagnostic research : JCDR

Prafulla S Ambulkar, Jwalant E Waghmare, Ajay R Chaudhari, Vandana R Wankhede, Aaditya M Tarnekar, Moreshwar R Shende, Asoke K Pal

Affiliations

  1. Senior Research Fellow and Department of Anatomy, Human Genetic Division, Mahatma Gandhi Institute of Medical Sciences , Sevagram, Wardha, Maharashtra, India .
  2. Associate Professor, Department of Anatomy, Mahatma Gandhi Institute of Medical Sciences , Sevagram, Wardha, Maharashtra, India .
  3. Professor and Head Department of Physiology, Mahatma Gandhi Institute of Medical Sciences , Sevagram, Wardha, Maharashtra, India .
  4. Professor, Department of Anatomy, Mahatma Gandhi Institute of Medical Sciences , Sevagram, Wardha, Maharashtra, India .
  5. Professor and Head, Department of Anatomy, Mahatma Gandhi Institute of Medical Sciences , Sevagram, Wardha, Maharashtra, India .
  6. Professor, Department of Anatomy, Human Genetic Division, (Cytogenetics and Molecular Genetics), Mahatma Gandhi Institute of Medical Sciences , Sevagram, Wardha, Maharashtra, India .

PMID: 28050401 PMCID: PMC5198354 DOI: 10.7860/JCDR/2016/22412.8843

Abstract

INTRODUCTION: Mitochondria and mitochondrial DNA are essential to sperm motility and fertility. It controls growth, development and differentiation through oxidation energy supply. Mitochondrial (mtDNA) deletions or mutation are frequently attributed to defects of sperm motility and finally these deletions lead to sperm dysfunction and causes infertility in male.

AIM: To investigate the correlation between large scale 7436-bp deletions in sperm mtDNA and non-motility of sperm in asthenozoospermia and Oligoasthenoteratozoospermia (OAT) infertile men.

MATERIALS AND METHODS: The present prospective study was carried out in Human Genetic Division, Department of Anatomy, Mahatma Gandhi Institute of Medical Sciences, Sevagram from June 2014 to July 2016. We have studied 110 asthenozoospermia and OAT infertile men whose semen profile indicated abnormal motility and 50 normal fertile controls. Of 110 infertile men, 70 had asthenozoospermia and 40 had OAT. Fractionations of spermatozoa were done in each semen sample on the basis of their motility by percoll gradients discontinuous technique. Long-range PCR was used for detection of 7436-bp deletions in sperm mtDNA and was confirmed by primer shift technique.

RESULTS: Overall eight subjects (8/110; 7.2%) of which six (6/70; 8.57%) asthenozoospermia and two (2/40; 5%) OAT had shown deletions of 7436-bp. In 40% percoll fraction had more non-motile spermatozoa than 80% percoll fraction. The non-motile spermatozoa in 40% percoll fractions showed more mtDNA deletions (7.2%) than the motile spermatozoa in 80% percoll fraction (2.7%). The sequencing of flanking regions of deleted mtDNA confirmed 7436-bp deletions. Interestingly, no deletions were found in control subjects.

CONCLUSION: Though, the frequency of 7436-bp deletions in sperm mtDNA was low in infertile cases but meaningful indications were there when results were compared with controls. It is indicated that large scale deletions 7436-bp of mtDNA is associated with abnormal sperm motility. The 7436-bp deletions of mtDNA in spermatozoa may be one of the important causes of dysfunction and non-motile sperm.

Keywords: Asthenozoospermia; Mitochondrial DNA deletions; Oligoasthenoteratozoospermia

References

  1. Mol Hum Reprod. 2001 Jan;7(1):103-11 - PubMed
  2. Trends Genet. 2004 Sep;20(9):393-8 - PubMed
  3. Int J Androl. 2005 Apr;28(2):65-73 - PubMed
  4. Soc Reprod Fertil Suppl. 2007;65:399-416 - PubMed
  5. Indian J Biochem Biophys. 2007 Dec;44(6):437-42 - PubMed
  6. Hum Mol Genet. 2009 Mar 15;18(6):1028-36 - PubMed
  7. BMC Res Notes. 2009 Feb 04;2:18 - PubMed
  8. Indian J Med Res. 2009 Feb;129(2):127-37 - PubMed
  9. Singapore Med J. 2009 Apr;50(4):336-47 - PubMed
  10. Indian J Urol. 2008 Apr;24(2):150-4 - PubMed
  11. Indian J Biochem Biophys. 2009 Apr;46(2):172-7 - PubMed
  12. Mitochondrion. 2010 Aug;10(5):419-28 - PubMed
  13. J Hum Genet. 2011 Oct;56(10):689-94 - PubMed
  14. Int J Androl. 2012 Apr;35(2):109-24 - PubMed
  15. Andrologia. 2014 Apr;46(3):258-62 - PubMed
  16. Arch Gynecol Obstet. 2013 Jul;288(1):191-9 - PubMed
  17. Mitochondrial DNA. 2014 Aug;25(4):321-8 - PubMed
  18. Indian J Biochem Biophys. 2013 Dec;50(6):492-9 - PubMed
  19. World J Mens Health. 2014 Apr;32(1):1-17 - PubMed
  20. Nat Rev Mol Cell Biol. 2014 Oct;15(10):634-46 - PubMed
  21. Int J Fertil Steril. 2015 Jan-Mar;8(4):453-63 - PubMed
  22. J Hum Reprod Sci. 2016 Jan-Mar;9(1):35-40 - PubMed
  23. Nature. 1981 Apr 9;290(5806):457-65 - PubMed
  24. Biol Reprod. 1995 Apr;52(4):729-36 - PubMed
  25. Mol Hum Reprod. 1998 Jul;4(7):657-66 - PubMed

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