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

  title={Chromosomal aneuploidies and DNA fragmentation of human spermatozoa from patients exposed to perfluorinated compounds},
  author={Laura Governini and Cristiana Guerranti and Vincenzo de Leo and L Boschi and Alice Luddi and Martina Gori and Raoul Orvieto and Paola Piomboni},
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… 


A systematic literature search was performed up to January 2015 in order to determine the impact of sperm DNA integrity and of the techniques used to determine it, and shows promising results in determining the sperm genetic status.

Sperm DNA Fragmentation: A New Guideline for Clinicians

An overview of SDF types, origin and comparative analysis of various SDF assays is provided and the advantages and drawbacks of the clinical utility of S DF testing are examined using Strength-Weaknesses-Opportunities-Threats (SWOT) analysis.

FISH and Chimps: Insights into Frequency and Distribution of Sperm Aneuploidy in Chimpanzees (Pan troglodytes)

This work investigates the incidence and distribution of sperm aneuploidy in chimpanzees (Pan troglodytes), the species closest to human, and identifies evolutionary conserved DNA sequences in human and chimpanzee and selected homologous sub-telomeric regions for all chromosomes to build custom probes and perform sperm-FISH analysis.

Meiotic nondisjunction and sperm aneuploidy in humans

The gender differences in meiosis between the sexes will be examined, and why less emphasis is placed on the paternal contribution to aneuploidy will be explored, as well as some of the challenges precluding widespread clinical implementation.

Environmental contaminants and male infertility: Effects and mechanisms

The escalating prevalence of male infertility and decreasing trend in sperm quality have been correlated with rapid industrialisation and the associated discharge of an excess of synthetic substances into the environment and the possible mechanisms of action are discussed.

Perfluoro-octanoic acid impairs sperm motility through the alteration of plasma membrane

PFOA alters human sperm motility through plasma-membrane disruption, an effect recovered by incubation with β-CD, suggesting membrane involvement.

Male reproductive toxicity involved in spermatogenesis induced by perfluorooctane sulfonate and perfluorooctanoic acid in Caenorhabditis elegans

Results suggest that PFOS or PFOA may cause spermatogenesis damage by disrupting the mitotic proliferation, meiotic entry, formation of the MOs, fusion of theMOs and plasma membrane (PM), and pseudopods.

Per- and polyfluoroalkyl substances impact human spermatogenesis in a stem-cell-derived model

While not having direct effects on germ cell viability, these effects suggest the potential for long-term impacts on male fertility through the exhaustion of the spermatogonial stem cell pool and abnormalities in primary sarmatocytes.

Gestational Perfluorooctanoic Acid Exposure Inhibits Placental Development by Dysregulation of Labyrinth Vessels and uNK Cells and Apoptosis in Mice

G gestational PFOA exposure significantly inhibited development of early placenta through shrinkage of labyrinth vessels and downregulation of uNK cells and apoptosis induction, which may result in adverse gestational outcomes.

Current Insights and Latest Updates in Sperm Motility and Associated Applications in Assisted Reproduction

Various pharmacological agents and biomolecules that can enhance sperm motility in vitro and in vivo conditions to improve assisted reproductive technology (ART) outcomes are discussed.



Nuclear staining identifies two populations of human sperm with different DNA fragmentation extent and relationship with semen parameters.

The correlations between sperm DNA breakage and semen quality previously reported are mainly driven by the occurrence of the PI(dim) population, which are more likely to have poorer morphology, reduced motility and thus a reduced chance to fertilize an oocyte than DNA damaged sperm in PI(br) population.

Biological and clinical significance of DNA damage in the male germ line.

The type, source and measurement of DNA damage in human spermatozoa is considered, the clinical utility of the information generated in such studies is addressed, and areas where further research is needed to bridge the gap between an intriguing biological phenomenon and the evidence-based clinical management of male patients characterized by high levels of DNADamage.

Reliability of aneuploidy estimates in human sperm: Results of fluorescence in situ hybridization studies using two different scoring criteria

The percentage of disomy decreased significantly with use of one domain as the minimum distance for signal separation for all chromosomes except for chromosome number 12, which suggests that the fluorescent signals for chromosomes 1, X, and Y split into more than one domain in decondensed interphase sperm.

Effects of environmental and occupational pesticide exposure on human sperm: a systematic review.

  • M. Perry
  • Psychology
    Human reproduction update
  • 2008
Results to date of studies examining pesticide effects on human sperm remain equivocal as to the spermatotoxic and aneugenic potential of pesticides given the small number of published studies, and suggestions for future studies are outlined.

Exposure to PCB and p, p'-DDE in European and Inuit populations: impact on human sperm chromatin integrity.

The results suggest that human dietary PCB exposure might have a negative impact on the sperm chromatin integrity of adult males but additional issues, including differences in the genetic background and lifestyle habits, still need to be elucidated.

Human Exposure to Endocrine Disrupters and Semen Quality

An overview of the human semen quality literature is presented that examines the role of endocrine disrupters including organochlorines (OC), dioxins, phthalates, phytoestrogens, and chemical mixtures (pesticides and tobacco smoke).

Do Perfluoroalkyl Compounds Impair Human Semen Quality?

High PFAA levels were associated with fewer normal sperm, which may contribute to the otherwise unexplained low semen quality often seen in young men, and these findings need to be corroborated in larger studies.

The impact of environmental exposure to perfluorinated compounds on oocyte fertilization capacity

In an attempt to assess the effect of perfluorinated compounds (PFC) on oocytes quality and fertilization rate, researchers studied follicular fluid PFC levels in 18 patients undergoing IVF-ET cycles and found that patients with FF PFC contamination had significantly lower fertilization rates and number of embryos transferred.

New Players in the Infertility of a Mouse Model of Lysosomal Storage Disease: The Hypothalamus-Pituitary-Gonadal Axis

The severe impairment of the central nervous system that affects the Twitcher mouse could interfere with the hypothalamus-pituitary-gonadal axis function, contributing to infertility, and the potential variation in expression pattern of brain hormones involved in spermatogenesis regulation is determined.

Contribution of environmental factors to the risk of male infertility.

It is shown that environmental factors contribute to the severity of infertility, and that this may worsen the effects of pre-existing genetic or medical risk factors.