Journal of Reproduction & Infertility

Journal of Reproduction & Infertility

Association of Sperm Aneuploidy Frequency and DNA Fragmentation Index in Infertile Men

Authors
Meenakshi Arumugam
Deyyanthody Shetty
Jayarama Kadandale
Suchetha Nalilu
KSHEMA Centre for Genetic Services, K. S. Hegde Medical Academy, Nitte University, Mangalore, Karnataka, India
Abstract
Background: For improving the evaluation of male infertility, many parameters were studied and reported in earlier literature. The aim of this study was to estimate the frequency of sperm aneuploidy and DNA fragmentation in infertile men and to assess the correlation between sperm aneuploidy and DNA fragmentation. Methods: In this study 100 infertile men were included, cases with azoospermia were 68%, oligospermia 18%, severe oligospermia 6%, and oligoasthenoteratospermia (OAT) 8%. Ten normozoospermic men who had two normal children were included as a control. The sperm aneuploidy test by Fluorescence In Situ Hybridization (FISH) and sperm DNA fragmentation index by TdT (Terminal deoxynucleotidyl transferase)-mediated dUTP nick end labelling (TUNEL) were carried out. To determine the aneuploidy status and DNA fragmentation index, frequency was used. The correlation between sperm aneuploidy and sperm DNA fragmentation along with age was assessed by using Spearman's correlation coefficient. The p<0.05 was considered significant. Results: The age of 100 subjects ranged between 22-48 years (35.5±5.1). Sperm aneuploidy frequency and DNA fragmentation rate were found to be higher in infertile men compared to control men (n=10). There was a significant relationship between age and sex chromosomal aneuploidy (p<0.05) and significant difference between sperm aneuploidy and damaged DNA (p<0.05). Conclusion: FISH and TUNEL assay results showed increased sperm aneuploidy frequency, and DNA fragmentation index in infertile men compared with the fertile men. There is significant relationship observed between sperm aneuploidy and DNA fragmentation. These two parameters are important and they must be investigated for clinical practice.
Keywords
DNA Fragmentation
Male infertility
Sperm aneuploidy
TUNEL assay
  1. Harton GL, Tempest HG. Chromosomal disorders and male infertility. Asian J Androl. 2012;14(1):32-9.
  2. Di Santo M, Tarozzi N, Nadalini M, Borini A. Analysis of sperm DNA fragmentation and aneuploidy in 109 infertile patients: are the two parameters correlated? Gynecol Obstet Case Rep. 2016;2:2.
  3. Rosalia Sa, Sousa M. Sperm aneuploidy and DNA integrity: a review. EMJ Repro Health. 2015;1(1):65-73.
  4. Templado C, Uroz L, Estop A. New insights on the origin and relevance of aneuploidy in human spermatozoa. Mol Hum Reprod. 2013;19(10):634-43.
  5. Carrell DT, Emery BR, Wilcox AL, Campbell B, Erickson L, Hatasaka HH, et al. Sperm chromosome aneuploidy as related to male factor infertility and some ultrastructure defects. Arch Androl. 2004;50 (3):181-5.
  6. Muriel L, Goyanes V, Segrelles E, Gosalvez J, Alvarez J, Fernandez JL. Increased aneuploidy rate in sperm with fragmented DNA as determined by the sperm chromatin dispersion (SCD) test and FISH analysis. J Androl. 2007;28(1):38-49.
  7. 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):148-54.
  8. Bernardini L, Borini A, Preti S, Conte N, Flamigni C, Capitanio GL, et al. Study of aneuploidy in normal and abnormal germ cells from semen of fertile and infertile men. Hum Reprod. 1998;13(12):3406-13.
  9. Sarrate Z, Vidal F, Blanco J. Role of sperm fluorescent in situ hybridization studies in infertile patients: indications, study approach, and clinical relevance. Fertil Steril. 2010;93(6):1892-902.
  10. Borini A, Tarozzi N, Bizzaro D, Bonu MA, Fava L, Flamigni C, et al. Sperm DNA fragmentation: paternal effect on early post-implantation embryo development in ART. Hum Reprod. 2006;21(11):2876-81.
  11. Wyrobek AJ, Eskenazi B, Young S, Arnheim N, Tiemann-Boege I, Jabs EW, et al. Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm. Proc Natl Acad Sci USA. 2006;103(25): 9601-6.
  12. Martin RH, Spriggs E, KO E, Rademaker AW. The relationship between paternal age, sex ratios, and aneuploidy frequencies in human sperm, as assessed by multicolor FISH. Am J Hum Genet. 1995;57(6):1395-9.
  13. Ramasamy R, Scovell JM, Kovac JR, Cook PJ, Lamb DJ, Lipshultz LI. Fluorescence in situ hybridization detects increased sperm aneuploidy in men with recurrent pregnancy loss. Fertil Steril. 2015;103(4):906-9.
  14. Aran B, Blanco J, Vidal F, Vendrell JM, Egozcue S, Barri PN, et al. Screening for abnormalities of chromosomes X, Y, and 18 and for diploidy in spermatozoa from infertile men participating in an in vitro fertilization intra cytoplasmic sperm injection program. Fertil Steril. 1999;72(4):696-701.
  15. Moosani N, Pattinson HA, Carter MD, Cox DM, Rademaker AW, Martin RH. Chromosomal analysis of sperm from men with idiopathic infertility using sperm karyotyping and fluorescence in situ hybridization. Fertil Steril. 1995;64(4):811-7.
  16. Singh NP, Muller CH, Berger RE. Effects of age on DNA double-strand breaks and apoptosis in human sperm. Fertil Steril. 2003;80(6):1420-30.
  17. Sergerie M, Laforest G, Bujan L, Bissonnette F, Bleau G. Sperm DNA fragmentation: threshold value in male fertility. Hum Reprod. 2005;20(12):3446-51.
  18. 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):130-5.
  19. Enciso M, Alfarawati S, Wells D. Increased numbers of DNA-damaged spermatozoa in samples presenting an elevated rate of numerical chromosome abnormalities. Hum Reprod. 2013;28(6):1707-15.
  20. Balasuriya A, Speyer B, Serhal P, Doshi A, Harper JC. Sperm chromatin dispersion test in the assessment of DNA fragmentation and aneuploidy in human spermatozoa. Reprod Biomed Online. 2011;22(5):428-36.
Journal of Reproduction & Infertility
Volume 20, Issue 3
Summer 2019
Pages 121-126