title: Correlation between aneuploidy, apoptotic markers and DNA fragmentation in spermatozoa from normozoospermic patients.
abstract: Genetic and biochemical sperm integrity is essential to ensure the reproductive competence. However, spermatogenesis involves physiological changes that could endanger sperm integrity. DNA protamination and apoptosis have been studied extensively. Furthermore, elevated rates of aneuploidy and DNA injury correlate with reproductive failures. Consequently, this study applied the conventional spermiogram method in combination with molecular tests to assess genetic integrity in ejaculate from normozoospermic patients with implantation failure by retrospectively analysing aneuploidy (chromosomes 18, X, Y), DNA fragmentation, externalization of phosphatidylserine and mitochondrial membrane potential status before and after magnetic activated cell sorting (MACS). Aneuploid, apoptotic and DNA-injured spermatozoa decreased significantly after MACS. A positive correlation was detected between reduction of aneuploidy and decreased DNA damage, but no correlation was determined with apoptotic markers. The interactions between apoptotic markers, DNA integrity and aneuploidy, and the effect of MACS on these parameters, remain unknown. In conclusion, use of MACS reduced aneuploidy, DNA fragmentation and apoptosis. A postulated mechanism relating aneuploidy and DNA injury is discussed; on the contrary, cell death markers could not be related. An 'apoptotic-like' route could explain this situation.
authors.affiliation: Reproductive Genetics Unit, Sistemas Genómicos S.L, Paterna, Valencia, Spain. Electronic address: javier.vendrell@sistemasgenomicos.com.
authors.forename: Xavier
authors.initials: X
authors.lastname: Vendrell
authors.affiliation: Assisted Reproduction Medical Centre CREA, Valencia, Spain.
authors.forename: Minerva
authors.initials: M
authors.lastname: Ferrer
authors.affiliation: Reproductive Genetics Unit, Sistemas Genómicos S.L, Paterna, Valencia, Spain.
authors.forename: Elena
authors.initials: E
authors.lastname: García-Mengual
authors.affiliation: Assisted Reproduction Medical Centre CREA, Valencia, Spain.
authors.forename: Patricia
authors.initials: P
authors.lastname: Muñoz
authors.affiliation: Bioinformatics Department, Sistemas Genómicos S.L, Paterna, Valencia, Spain.
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: Triviño
authors.affiliation: Assisted Reproduction Medical Centre CREA, Valencia, Spain.
authors.forename: Carmen
authors.initials: C
authors.lastname: Calatayud
authors.affiliation: Assisted Reproduction Medical Centre CREA, Valencia, Spain; REPROTEC, Buenos Aires, Argentina.
authors.forename: Vanesa Y
authors.initials: VY
authors.lastname: Rawe
authors.affiliation: Assisted Reproduction Medical Centre CREA, Valencia, Spain.
authors.forename: Miguel
authors.initials: M
authors.lastname: Ruiz-Jorro
mesh_terms: D000328:Adult; D000782:Aneuploidy; D017209:Apoptosis; D002469:Cell Separation / Q000379:methods; D002499:Centrifugation, Density Gradient; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics; D053938:DNA Fragmentation; D004171:Diploidy; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D013094:Spermatozoa / Q000378:metabolism / Q000473:pathology*
keywords: DNA fragmentation; MACS; aneuploidy; apoptosis; cell death; spermatozoa