Meiotic segregation and sperm DNA fragmentation in Tunisian men with dysplasia of the fibrous sheath (DFS) associated with head abnormalities

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• 作者：H. Ghedir (1)
  A. Mehri (1)
  M Mehdi (1)
  S Brahem (1)
  A. Saad (1)
  S. Ibala-Romdhane (1)
  
• 关键词：Akinozoospermia ; Dysplasia of the fibrous sheath ; Aneuploidy ; DNA fragmentation
• 刊名：Journal of Assisted Reproduction and Genetics
• 出版年：2014
• 出版时间：September 2014
• 年：2014
• 卷：31
• 期：9
• 页码：1167-1174
• 全文大小：311 KB
• 参考文献：1. Chemes HE, Brugo S, Zanchetti F, Carrere C, Lavieri JC. Dysplasia of the fibrous sheath: an ultrastructural defect of human spermatozoa associated with sperm immotility and primary sterility. Fertil Steril. 1987;48(4):664鈥?.
  2. Chemes HE, Olmedo SB, Carrere C, Oses R, Carizza C, Leisner M, et al. Ultrastructural pathology of the sperm flagellum: association between flagellar pathology and fertility prognosis in severely asthenozoospermic men. Hum Reprod. 1998;13(9):2521鈥?. CrossRef
  3. Chemes HE. Phenotypes of sperm pathology: genetic and acquired forms in infertile men. J Androl. 2000;21(6):799鈥?08.
  4. Chemes EH, Rawe YV. Sperm pathology: a step beyond descriptive morphology. origin, characterization and fertility potential of abnormal sperm phenotypes in infertile men. Hum Reprod Update. 2003;9(5):405鈥?8. CrossRef
  5. Baccetti B, Capitani S, Collodel G, Di Cairano G, Gambera L, Moretti E, et al. Genetic sperm defects and consanguinity. Hum Reprod. 2001;16(7):1365鈥?1. CrossRef
  6. Jassim A, Gillott DJ, al-Zuhdi Y, Gray A, Foxon R, Bottazzo GF. Isolation and biochemical characterization of the human sperm tail fibrous sheath. Hum Reprod. 1992;7(1):86鈥?4.
  7. Francavilla S, Cordeschi G, Pelliccione F, Bocchio M, Francavilla F. Isolated teratozoospermia: a cause of male sterility in the era of ICSI? Front Biosci. 2007;12:69鈥?8. CrossRef
  8. Brown PR, Miki K, Harper DB, Eddy EM. A-kinase anchoring protein 4 binding proteins in the fibrous sheath of the sperm flagellum. Biol Reprod. 2003;68(6):2241鈥?. CrossRef
  9. Eddy EM, Toshimori K, O鈥橞rien DA. Fibrous sheath of mammalian spermatozoa. Microsc Res Tech. 2003;61(1):103鈥?5. CrossRef
  10. Miki K, Willis WD, Brown PR, Goulding EH, Fulcher KD, Eddy EM. Targeted disruption of the Akap4 gene causes defects in sperm flagellum and motility. Dev Biol. 2002;248(2):331鈥?2. CrossRef
  11. Baccetti B, Collodel G, Estenoz M, Manca D, Moretti E, Piomboni P. Gene deletions in an infertile man with sperm fibrous sheath dysplasia. Hum Reprod. 2005;20(10):2790鈥?. CrossRef
  12. Collodel G, Moretti E. Sperm morphology and aneuploidies: defects of supposed genetic origin. Andrologia. 2006;38(6):208鈥?5. CrossRef
  13. Viville S, Mollard R, Bach ML, Falquet C, Gerlinger P, Warter S. Do morphological anomalies reflect chromosomal aneuploidies? Hum Reprod. 2000;15(12):2563鈥?. CrossRef
  14. Baccetti B, Collodel G, Gambera L, Moretti E, Serafini F, Piomboni P. Fluorescence / in situ hybridization and molecular studies in infertile men with dysplasia of the fibrous sheath. Fertil Steril. 2005;84(1):123鈥?. CrossRef
  15. Rives N, Mousset-Simeon N, Mazurier S, Mace B. Primary flagellar abnormality is associated with an increased rate of spermatozoa aneuploidy. J Androl. 2005;26(1):61鈥?.
  16. Moretti E, Collodel G. Three cases of genetic defects affecting sperm tail: a FISH study. J Submicrosc Cytol Pathol. 2006;38(2鈥?):137鈥?1.
  17. WHO. (World Health Organization). Laboratory manual for the examination and processing of human semen. 5th ed. New York: Cambridge University Press; 2010.
  18. Eustache F, Auger J. Inter-individual variability in the morphological assessment of human sperm: effect of the level of experience and the use of standard methods. Hum Reprod. 2003;18(5):1018鈥?2. CrossRef
  19. Rawe VY, Terada Y, Nakamura S, Chillik CF, Olmedo SB, Chemes HE. A pathology of the sperm centriole responsible for defective sperm aster formation, syngamy and cleavage. Hum Reprod. 2002;17(9):2344鈥?. CrossRef
  20. Moretti E, Geminiani M, Terzuoli G, Renieri T, Pascarelli N, Collodel G. Two cases of sperm immotility: a mosaic of flagellar alterations related to dysplasia of the fibrous sheath and abnormalities of head-neck attachment. Fertil Steril. 2011;95(5):e19鈥?3. CrossRef
  21. Calogero AE, De Palma A, Grazioso C, Barone N, Romeo R, Rappazzo G, et al. Aneuploidy rate in spermatozoa of selected men with abnormal semen parameters. Hum Reprod. 2001;16(6):1172鈥?. CrossRef
  22. Gole LA, Wong PF, Ng PL, Wang XQ, Ng SC, Bongso A. Does sperm morphology play a significant role in increased sex chromosomal disomy? a comparison between patients with teratozoospermia and OAT by FISH. J Androl. 2001;22(5):759鈥?3.
  23. Harkonen K, Suominen J, Lahdetie J. Aneuploidy in spermatozoa of infertile men with teratozoospermia. Int J Androl. 2001;24(4):197鈥?05. CrossRef
  24. Templado C, Hoang T, Greene C, Rademaker A, Chernos J, Martin R. Aneuploid spermatozoa in infertile men: teratozoospermia. Mol Reprod Dev. 2002;61(2):200鈥?. CrossRef
  25. Lewis-Jones I, Aziz N, Seshadri S, Douglas A, Howard P. Sperm chromosomal abnormalities are linked to sperm morphologic deformities. Fertil Steril. 2003;79(1):212鈥?. CrossRef
  26. Tang SS, Gao H, Zhao Y, Ma S. Aneuploidy and DNA fragmentation in morphologically abnormal sperm. Int J Androl. 2010;33(1):e163鈥?9. CrossRef
  27. Brahem S, Elghezal H, Ghedir H, Landolsi H, Amara A, Ibala S, et al. Cytogenetic and molecular aspects of absolute teratozoospermia: comparison between polymorphic and monomorphic forms. Urology. 2011;78(6):1313鈥?. CrossRef
  28. Mehdi M, Gmidene A, Brahem S, Guerin JF, Elghezal H, Saad A. Aneuploidy rate in spermatozoa of selected men with severe teratozoospermia. Andrologia. 2012;44 Suppl 1:139鈥?3. CrossRef
  29. Perrin A, Louanjli N, Ziane Y, Louanjli T, Le Roy C, Gueganic N, et al. Study of aneuploidy and DNA fragmentation in gametes of patients with severe teratozoospermia. Reprod BioMed Online. 2011;22(2):148鈥?4. CrossRef
  30. Mateu E, Rodrigo L, Prados N, Gil-Salom M, Remohi J, Pellicer A, et al. High incidence of chromosomal abnormalities in large-headed and multiple-tailed spermatozoa. J Androl. 2006;27(1):6鈥?0. CrossRef
  31. Brahem S, Mehdi M, Elghezal H, Saad A. Study of aneuploidy rate and sperm DNA fragmentation in large-headed, multiple-tailed spermatozoa. Andrologia. 2012;44(2):130鈥?. CrossRef
  32. Martin RH, Greene C, Rademaker AW. Sperm chromosome aneuploidy analysis in a man with globozoospermia. Fertil Steril. 2003;79 Suppl 3:1662鈥?. CrossRef
  33. Brahem S, Mehdi M, Elghezal H, Saad A. Analysis of sperm aneuploidies and DNA fragmentation in patients with globozoospermia or with abnormal acrosomes. Urology. 2011;77(6):1343鈥?. CrossRef
  34. Egozcue S, Blanco J, Vidal F, Egozcue J. Diploid sperm and the origin of triploidy. Hum Reprod. 2002;17(1):5鈥?. CrossRef
  35. Lopes S, Sun JG, Jurisicova A, Meriano J, Casper RF. Sperm deoxyribonucleic acid fragmentation is increased in poor-quality semen samples and correlates with failed fertilization in intracytoplasmic sperm injection. Fertil Steril. 1998;69(3):528鈥?2. CrossRef
  36. Aitken RJ, De Iuliis GN. Origins and consequences of DNA damage in male germ cells. Reprod BioMed Online. 2007;14(6):727鈥?3. CrossRef
  37. Mehdi M, Khantouche L, Ajina M, Saad A. Detection of DNA fragmentation in human spermatozoa: correlation with semen parameters. Andrologia. 2009;41(6):383鈥?. CrossRef
  38. Brahem S, Mehdi M, Elghezal H, Saad A. Detection of DNA fragmentation and meiotic segregation in human with isolated teratozoospermia. J Assist Reprod Genet. 2011;28(1):41鈥?. CrossRef
  39. Muratori M, Piomboni P, Baldi E, Filimberti E, Pecchioli P, Moretti E, et al. Functional and ultrastructural features of DNA-fragmented human sperm. J Androl. 2000;21(6):903鈥?2.
  40. Evenson DP, Larson KL, Jost LK. Sperm chromatin structure assay: its clinical use for detecting sperm DNA fragmentation in male infertility and comparisons with other techniques. J Androl. 2002;23(1):25鈥?3.
  41. Garza SAD, Patrizio P. Reproductive outcomes in patients with male infertility because of Klinefelter鈥檚 syndrome, Kartagener鈥檚 syndrome, round-head sperm, dysplasia fibrous sheath, and 鈥榮tump鈥?tail sperm: an updated literature review. Curr Opin Obstet Gynecol. 2013;25(3):229鈥?6. CrossRef
  42. Olmedo SB, Nodar F, Chillik C, Chemes HE. Successful intracytoplasmic sperm injection with spermatozoa from a patient with dysplasia of the fibrous sheath and chronic respiratory disease. Hum Reprod. 1997;12(7):1497鈥?. CrossRef
  43. Mitchell V, Rives N, Albert M, Peers MC, Selva J, Clavier B, et al. Outcome of ICSI with ejaculated spermatozoa in a series of men with distinct ultrastructural flagellar abnormalities. Hum Reprod. 2006;21(8):2065鈥?4. CrossRef
  
• 作者单位：H. Ghedir (1)
  A. Mehri (1)
  M Mehdi (1)
  S Brahem (1)
  A. Saad (1)
  S. Ibala-Romdhane (1)
  
  1. Laboratory of Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Teaching Hospital, 4000, Sousse, Tunisia
  
• ISSN：1573-7330

文摘

Purpose Dysplasia of the Fibrous Sheath (DFS) is a primitive flagellar pathology for which a broad spectrum of ultrastructural flagellar abnormalities has been described responsible for a severe to total asthenozoospermia. To this phenotype other morphological abnormalities including cephalic and abnormalities in nuclear structure can be associated that could compromise embryonic development in case of use of Assisted Reproductive Technology (ART). The aim of this study was to evaluate the level of DNA fragmentation and aneuploidy rate in ejaculated spermatozoa of Tunisian men presented with DFS sperm defect associated to high percentage of head abnormalities and to compare the results with those from fertile men. Methods Sperm DNA fragmentation was evaluated by the terminal desoxynucleotidyl transferase mediated deoxyuridine triphosphate biotin nick-end labelling (TUNEL) assay. The study of meiotic segregation was performed by Fluorescence in situ hybridization (FISH) for chromosomes X, Y and 18. Results The mean DNA fragmentation index was significantly higher in patients compared to the control group. FISH revealed a significantly higher incidence of sperm aneuploidies compared with controls. All patients showed elevated frequencies of sex chromosomes disomy, disomy 18 and diploidy. Conclusions In some cases of syndromic teratozoospermia due to sperm tail structural abnormalities, such as DFS, other morphological cephalic abnormalities may be associated. In these cases we have demonstrated impaired sperm nuclear quality which will affect the results in ICSI. Hence the interest of a thorough study of the sperm nucleus in these forms of infertility in order to predict the chances of success in ART.