Association of sperm mitochondrial DNA deletions with male infertility in an Iranian population

References

• Aitken R, Bronson R, Smith T, De Iuliis GN. 2013. The source and significance of DNA damage in human spermatozoa; a commentary on diagnostic strategies and straw man fallacies. Mol Hum Reprod. 19:475–485.
   PubMed Web of Science ®Google Scholar
• Anandakumar S, Ravindran SP, Shanmughavel P. 2016. Functional annotation of introns in mitochondrial genome: a brief review. Mitochondrial DNA A DNA Mapp Seq Anal. 27:811–814.
   PubMedGoogle Scholar
• Bahrehmand Namaghi I, Vaziri H. 2017. Sperm mitochondrial DNA deletion in Iranian infertiles with asthenozoospermia. Andrologia. 49. Doi: 10.1111/and.12627
   PubMed Web of Science ®Google Scholar
• Baklouti-Gargouri S, Ghorbel M, Ben Mahmoud A, Mkaouar-Rebai E, Cherif M, Chakroun N, Sellami A, Fakhfakh F, Ammar-Keskes L. 2013. Mitochondrial DNA mutations and polymorphisms in asthenospermic infertile men. Mol Biol Rep. 40:4705–4712.
   PubMed Web of Science ®Google Scholar
• Slimen IB, Najar T, Dabbebi H, Ben Mrad M, Abdrabbah M. 2014. Reactive oxygen species, heat stress and oxidative-induced mitochondrial damage. A review. Int J Hyperthermia. 30:513–523.
   PubMed Web of Science ®Google Scholar
• Chari MG, Colagar AH, Bidmeshkipour A. 2015. A novel large-scale deletion of the mitochondrial DNA of spermatozoa of men in north Iran. Int J Fertil Steril. 8:453–463.
   PubMed Web of Science ®Google Scholar
• Cummins JM, Jequier AM, Martin R. 1998. Semen levels of mitochondrial DNA deletions in men attending an infertility clinic do not correlate with phenotype. Int J Androl. 21:47–52.
   PubMedGoogle Scholar
• Davila MP, Muñoz PM, Bolaños JM, Stout TA, Gadella BM, Tapia JA, da Silva CB, Ferrusola CO, Peña FJ. 2016. Mitochondrial ATP is required for the maintenance of membrane integrity in stallion spermatozoa, whereas motility requires both glycolysis and oxidative phosphorylation. Reproduction. 152:683–694.
   PubMed Web of Science ®Google Scholar
• Dhillon VS, Shahid M, Husain SA. 2007. Associations of MTHFR DNMT3b 4977 bp deletion in mtDNA and GSTM1 deletion, and aberrant CpG island hypermethylation of GSTM1 in non-obstructive infertility in Indian men. Mol Hum Reprod. 13:213–222.
   PubMed Web of Science ®Google Scholar
• Eskenazi B, Wyrobek AJ, Sloter E, Kidd SA, Moore L, Young S, Moore D. 2003. The association of age and semen quality in healthy men. Hum Reprod. 18:447–454.
   PubMed Web of Science ®Google Scholar
• Fattoruso O, Zarrilli S, Coto I, De Rosa M, Lombardi G, Sacchetti L. 2009. Prevalence of Y microdeletions in azoospermic and severe oligozoospermic men in Southern Italy: application of a rapid capillary electrophoresis method. J Endocrinol Invest. 32:223–227.
   PubMed Web of Science ®Google Scholar
• Ferlin A, Arredi B, Foresta C. 2006. Genetic causes of male infertility. Reprod Toxicol. 22:133–141.
   PubMed Web of Science ®Google Scholar
• Gashti NG, Salehi Z, Madani AH, Dalivandan ST. 2014. 4977-bp mitochondrial DNA deletion in infertile patients with varicocele . Andrologia. 46:258–262.
   PubMed Web of Science ®Google Scholar
• Hosseinzadeh Colagar A, Karimi F. 2014. Large scale deletions of the mitochondrial DNA in astheno, asthenoterato and oligoasthenoterato-spermic men. Mitochondrial DNA. 25:321–328.
   PubMed Web of Science ®Google Scholar
• Huang CC, Chen RS, Chen CM, Wang HS, Lee CC, Pang CY, Hsu HS, Lee HC, Wei YH. 1994. MELAS syndrome with mitochondrial tRNA (Leu (UUR)) gene mutation in a Chinese family. J Neurol Neurosurg Psychiatry. 57:586–589.
   PubMed Web of Science ®Google Scholar
• Ieremiadou F, Rodakis GC. 2009. Correlation of the 4977 bp mitochondrial DNA deletion with human sperm dysfunction. BMC Res Notes. 2:18.
   PubMedGoogle Scholar
• Jamali S, Karimian M, Nikzad H, Aftabi Y. 2016. The c.-190 C > A transversion in promoter region of protamine1 gene as a genetic risk factor for idiopathic oligozoospermia. Mol Biol Rep. 43:795–802.
   PubMed Web of Science ®Google Scholar
• Kao S, Chao HT, Wei YH. 1995. Mitochondrial deoxyribonucleic acid 4977-bp deletion is associated with diminished fertility and motility of human sperm. Biol Reprod. 52:729–736.
   PubMed Web of Science ®Google Scholar
• Kao SH, Chao HT, Wei YH. 1998. Multiple deletions of mitochondrial DNA are associated with the decline of motility and fertility of human spermatozoa. Mol Hum Reprod. 4:657–666.
   PubMed Web of Science ®Google Scholar
• Karimian M, Colagar AH. 2016. Association of C677T transition of the human methylenetetrahydrofolate reductase (MTHFR) gene with male infertility. Reprod Fertil Dev. 28:785–794.
   PubMed Web of Science ®Google Scholar
• Karimian M, Hosseinzadeh Colagar A. 2016. Methionine synthase A2756G transition might be a risk factor for male infertility: Evidences from seven case-control studies. Mol Cell Endocrinol. 425:1–10.
   PubMed Web of Science ®Google Scholar
• Karimian M, Hosseinzadeh Colagar A. 2017. Human MTHFR-G1793A transition may be a protective mutation against male infertility: a genetic association study and in silico-analysis. Hum Fertil. Doi: 10.1080/14647273.2017.1298161.
   Google Scholar
• Karimian M, Nikzad H, Azami-Tameh A. 2015. SPO11-C631T gene polymorphism: association with male infertility and an in silico-analysis. J Family Reprod Health. 9:155–163.
   PubMedGoogle Scholar
• Krausz C, Giachini C. 2007. Genetic risk factors in male infertility. Arch Androl. 53:125–133.
   PubMed Web of Science ®Google Scholar
• Kumar R, Venkatesh S, Kumar M, Tanwar M, Shasmsi MB, Kumar R, Gupta NP, Sharma RK, Talwar P, Dada R. 2014. Oxidative stress and sperm mitochondrial DNA mutation in idiopathic oligoastheno-zoospermic men. Indian J Biochem Biophys. 46:172.
   Google Scholar
• Lenzi A. 1995. Male infertility: evaluation of human sperm function and its clinical application. J Endocrinol Invest. 18:468–488.
   PubMed Web of Science ®Google Scholar
• Lestienne P, Reynier P, Chretien M-F, Penisson-Besnier I, Malthièry Y, Rohmer V. 1997. Oligoasthenospermia associated with multiple mitochondrial DNA rearrangements. Mol Hum Reprod. 3:811–814.
   PubMed Web of Science ®Google Scholar
• Miller D, Tang PZ, Skinner C, Lilford R. 1994. Differential RNA fingerprinting as a tool in the analysis of spermatozoal gene expression. Hum Reprod. 9:864–869.
   PubMed Web of Science ®Google Scholar
• Mita S, Rizzuto R, Moraes CT, Shanske S, Arnaudo E, Fabrizi GM, Koga Y, DiMauro S, Schon EA. 1990. Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. Nucleic Acids Res. 18:561–567.
   PubMed Web of Science ®Google Scholar
• Nikzad H, Karimian M, Sareban K, Khoshsokhan M, Hosseinzadeh Colagar A. 2015. MTHFR-Ala222Val and male infertility: a study in Iranian men, an updated meta-analysis and an in silico-analysis. Reprod Biomed Online. 31:668–680.
   PubMed Web of Science ®Google Scholar
• Parisi MA, Clayton DA. 1991. Similarity of human mitochondrial transcription factor 1 to high mobility group proteins. Science. 252:965–969.
   PubMed Web of Science ®Google Scholar
• Poulton J, Deadman ME, Bindoff L, Morten K, Land J, Brown G. 1993. Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form. Hum Mol Genet. 2:23–30.
   PubMed Web of Science ®Google Scholar
• Rafatmanesh A, Nikzad H, Ebrahimi A, Karimian M, Zamani T. 2017. Association of the c.-9C > T and c.368A > G transitions inH2BFWT gene with male infertility in an Iranian population. Andrologia. Doi: 10.1111/and.12805.
   PubMed Web of Science ®Google Scholar
• Rajender S, Rahul P, Mahdi AA. 2010. Mitochondria, spermatogenesis and male infertility. Mitochondrion. 10:419–428.
   PubMed Web of Science ®Google Scholar
• Raygan F, Karimian M, Rezaeian A, Bahmani B, Behjati M. 2016. Angiotensinogen-M235T as a risk factor for myocardial infarction in Asian populations: a genetic association study and a bioinformatics approach. Croat Med J. 57:351–362.
   PubMed Web of Science ®Google Scholar
• Sánchez-Alcázar JA, Ault JG, Khodjakov A, Schneider E. 2000. Increased mitochondrial cytochrome c levels and mitochondrial hyperpolarization precede camptothecin-induced apoptosis in Jurkat cells. Cell Death Differ. 7:1090–1100.
   PubMed Web of Science ®Google Scholar
• Schapira AH. 2012. Mitochondrial diseases. The Lancet. 379:1825–1834.
   PubMed Web of Science ®Google Scholar
• Skakkebaek NE, Rajpert-De Meyts E, Buck Louis GM, Toppari J, Andersson AM, Eisenberg ML, Jensen TK, Jørgensen N, Swan SH, Sapra KJ, et al. 2016. Male reproductive disorders and fertility trends: Influences of environment and genetic susceptibility. Physiol Rev. 96:55–97.
   PubMed Web of Science ®Google Scholar
• Soleimani Z, Kheirkhah D, Sharif MR, Sharif A, Karimian M, Aftabi Y. 2016. Association of CCND1 Gene c.870G > A polymorphism with breast cancer risk: a case-control study and a meta-analysis. Pathol Oncol Res. DOI: 10.1007/s12253-016-0165-3.
   PubMed Web of Science ®Google Scholar
• Spiropoulos J, Turnbull DM, Chinnery PF. 2002. Can mitochondrial DNA mutations cause sperm dysfunction? Mol Hum Reprod 8:719–721.
   PubMed Web of Science ®Google Scholar
• St John JC, Jokhi RP, Barratt CL. 2001. Men with oligoasthenoteratozoospermia harbour higher numbers of multiple mitochondrial DNA deletions in their spermatozoa, but individual deletions are not indicative of overall aetiology. Mol Hum Reprod. 7:103–111.
   PubMed Web of Science ®Google Scholar
• Tahmasbpour E, Balasubramanian D, Agarwal A. 2014. A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART). J Assist Reprod Genet. 31:1115–1137.
   PubMed Web of Science ®Google Scholar
• Tremellen K. 2008. Oxidative stress and male infertility-a clinical perspective. Hum Reprod Update. 14:243–258.
   PubMed Web of Science ®Google Scholar
• Van Goethem G, Martin J-J, Van Broeckhoven C. 2003. Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification. Neuromolecular Med. 3:129–146.
   PubMed Web of Science ®Google Scholar
• Wang J, Chen J, Cui X, Liu Y, Yin L, Li Y, Chen L, Xu D, Gao Y. 2016. The complete mitochondrial genome of Lutjanus erythopterus (Perciformes: Lutjanidae) with phylogenetic consideration. Mitochondrial DNA A DNA Mapp Seq Anal. 27:1364–1365.
   PubMedGoogle Scholar
• Wang J, Lu YY. 2009. Mitochondrial DNA 4977-bp deletion correlated with reactive oxygen species production and manganese superoxidedismutase expression in gastric tumor cells. Chin Med J (Engl). 122:431–436.
   PubMed Web of Science ®Google Scholar
• World Health Organization. 1999. WHO laboratory manual for the examination of human semen and semen-cervical mucus interaction. 4th ed. Cambridge (UK): Cambridge University Press.
   Google Scholar