Chromosomal aneuploidies and DNA fragmentation of human spermatozoa from patients exposed to perfluorinated compounds

Abstract

This study investigated chromosomal aneuploidies and DNA damage in spermatozoa from male patients contaminated by perfluorinated compounds (PFCs) in whole blood and seminal plasma. Sperm aneuploidy and diploidy rate for chromosomes 18, X and Y were evaluated by FISH; sperm DNA fragmentation was assessed by terminal deoxynucleotidyl transferase-mediated dUTP nick end-labelling technique coupled to flow cytometry. Our results indicated that PFC contamination was present in 58% of subjects included in the study. A significant increase in alterations of sperm parameters was observed in PFC-positive subjects compared to PFC-negative subjects. As regards the sperm aneuploidy, both disomy and diploidy rates resulted significantly increased in subjects positive for PFC contamination compared to PFC-negative samples. In addition, sperm DNA fragmentation index resulted significantly increased in PFC-contaminated subjects compared to PFC-non-contaminated subjects, with a significant increased level of dimmer DNA fragmentation index. Our results clearly indicate that PFC contamination may detrimentally affect spermatogenesis, disturbing both meiotic segregation and DNA integrity. We could therefore suggest cautions to reduce or eliminate any contact with these compounds because the long-term effects of PFC accumulation in the body are not predictable.

Perfluoroalkyl and polyfluoroalkyl substances and measures of human fertility: a systematic review

“…A few studies reported on the possible associations between PFAS exposure and sperm DNA integrity and apoptotic markers (Specht et al 2012;Leter et al 2014;Buck Louis et al 2015;Governini et al 2015). PFOA, PFHxS, PFOS and PFNA were not consistently associated with sperm DNA integrity or fragmentation, or apoptotic markers in the study by Specht et al (2012).…”

“…The study by Buck Louis et al (2015) found a lower percentage of sperm with high DNA stainability with higher PFOSA, but no consistent associations for the other PFASs they investigated (Et-PFOSAAcOH, Me-PFOSA-AcOH, PFDA, PFNA, PFOS and PFOA), and none of the PFASs were associated with DNA fragmentation index. Governini et al (2015) found that men with the highest combined PFOA and PFOS levels had a higher DNA fragmentation index and higher rates of sperm aneuploidy, however this study included only 59 men.…”

“…Thirteen studies were cross-sectional Sakr et al 2007;Costa et al 2009;Joensen et al 2009;Raymer et al 2012;Specht et al 2012;Toft et al 2012;Joensen et al 2013;Jørgensen et al 2014;Leter et al 2014;Governini et al 2015;Lewis et al 2015;Tsai et al 2015), two were from a pregnancy planner cohort (Buck Louis et al 2013;Buck Louis et al 2015) and one was a case-control study (Den Hond et al 2015). Three studies were occupational Sakr et al 2007;Costa et al 2009) while the remaining studies studied non-occupationally exposed populations.…”

“…Three studies were occupational Sakr et al 2007;Costa et al 2009) while the remaining studies studied non-occupationally exposed populations. Nine reported on semen characteristics (Joensen et al 2009;Raymer et al 2012;Specht et al 2012;Toft et al 2012;Joensen et al 2013;Leter et al 2014;Buck Louis et al 2015;Den Hond et al 2015;Governini et al 2015) and 10 studies reported on the associations between PFASs and reproductive hormone levels Sakr et al 2007;Costa et al 2009;Joensen et al 2009;Raymer et al 2012;Specht et al 2012;Joensen et al 2013;Den Hond et al 2015;Lewis et al 2015;Tsai et al 2015). Two studies reported on TTP (Buck Louis et al 2013;Jørgensen et al 2014).…”

Phthalates and perfluorinated alkylated substances in Atlantic bluefin tuna (Thunnus thynnus) specimens from Mediterranean Sea (Sardinia, Italy): Levels and risks for human consumption

“…[40,41] Since both phthalates and PFASs show toxicity and prolonged exposure can affect endocrine function and cause neurodevelopmental disorders and infertility we have calculated the estimated daily ingestion of the contaminants of interest through tuna consumption. [42][43][44][45][46][47][48][49] The tolerable daily intake (TDI) established for DEHP is 0.05 mg/kg, a value that was used in this work as a basis of comparison for the intake of DEHP itself and for the total amount of DEHP and MEHP, being the latter a direct metabolite of DEHP. [12] We calculated the EDI for the general Italian population and for those who claimed to be fish consumers, assuming that their daily fish intake consisted solely of Atlantic bluefin tuna fillets (Table 3).…”