Archivio Italiano di Urologia e Andrologia 2013; 85, 18 INTRODUCTION Varicocele is one of the major causes of infertility in men, present in between 15-20% of the general male popula- tion (1, 2). It’s predominant in adolescents but found in 41% infertile men and 80% of those with secondary infer- tility (2). This anatomical abnormality due to the dilation of the venous plexus which covers the testicles (pampini- form plexus) is probably one of the most common causes of oligoasthenozoospermia (1, 3). The pathogenetic mech- anism through which varicocele causes testicular dysfunc- tion and subsequent alterations in spermatogenesis, is, however, not completely understood. Although various factors may be involved (venous stasis which leads to tes- ticular hypoxia) the increasing of internal testicular tem- ORIGINAL PAPER The study of spermatic DNA fragmentation and sperm motility in infertile subjects Giuseppina Peluso 1, Alessandro Palmieri 2, Pietro Paolo Cozza 1, Giancarlo Morrone 1, Paolo Verze 2, Nicola Longo 2, Vincenzo Mirone 2 1 U.O.S. of Andrology and Physiophatology of Reproduction-A.O. of Cosenza, Italy; 2 Urological Clinic, University Federico II of Naples, Italy. Introduction: Although the pathophysiology of the testicular damage associated with varicocele remains unclear, sperm DNA damage has been identified as a potential explanation for this cause of male infertility. The current study was designed to determine the extent of sperm nuclear DNA damage in patients with varicocele, and to examine its relationship with parameters of seminal motility. Materials and method: Semen samples from 60 patients with clinical varicocele and 90 infertile men without varicocele were examined. Varicocele sperm samples were classified as normal or pathological according to the 1999 World Health Organizzation guidelines. Sperm DNA damage was evalutated using the Halosperm kit, an improved Sperm Chromatin Dispersion (SCD) test. Results: The DNA fragmentation index (DFI: percentage of sperm with denatured nuclei) values was significantly higher in patients with varicocele, either with normal or abnormal (DFI 25.8 ± 3.2 vs 17.4 ± 2.8 - P < 0,01) semen profiles. In addition, an inverse correlation was found between spermatic motility and the degree of spermatic DNA fragmentation in patients with clinical varicocele. Conclusions: Varicocele is associated with high levels of DNA-damage in spermatozoa. In addition, in subjects with varicocele, abnormal spermatozoa motility is associated with high- er levels of sperm DNA fragmentation. DNA fragmentation may therefore be an essential additional diagnostic test that should be recommended for patients with clinical varicocele. KEY WORDS: Spermatic DNA fragmentation; Oxidative stress; Varicocele; Male infertility. Submitted 18 March 2013; Accepted 30 March 2013 No conflict of interest declared Summary perature is probably the most likely link between varico- cele and infertility. In fact, elevated scrotal temperature caused by vascular defects can cause altered production of spermatogenetic cells by germinal epithelium (1, 3). In fact, induced varicocele in laboratory animals leads to ele- vated intratesticular temperature and sperm dysfunction with decreased sperm motility (1, 3). Another link between varicocele and infertility may arise from impairment of the hypothalamic-gonadal axis or oxidative stress (OS) (4, 5). In fact, studies evaluating the role of oxidative stress in male infertility have recently shown that OS could be considered as an important cause of sperm dysfunction in varicocele infertile men (6-8), Peluso_Stesura Seveso 18/04/13 10:57 Pagina 8 9Archivio Italiano di Urologia e Andrologia 2013; 85, 1 The study of spermatic DNA fragmentation and sperm motility in infertile subjects and attending to Andrology Service for infertility diag- nosis and other andrological problems. Once consensus had been granted to be involved in this study, patients were given a thorough andrological analysis according to the guidelines provided by WHO 2001 which includ- ed complete anamnesis, scrotal scan, scrotal Doppler ultrasound, hormonal profile based on serum/blood lev- els basal gonadotrophines (FSH, LH and total blood Testo sterone), urethral sample for common microbes, two spermiograms at a week’s interval with a minimum of three days since sexual activity. Considering the results of these analysis, it was possible to identify 80 patients with varying degrees of clinical varicocele but predominantly unilateral. All patients with urinary tract infections, leucocytospermia, hypogonadism (testicular volume < 15 ml), a history of excess of cigarette, alco- hol or drug use were excluded from the study. The con- trol group consisted of 100 healthy males with normal genitalia and normal seminal parameters, as defined by the WHO 2001 guidelines. For each patient included in the study, the spermatozoon population was determined. In addition, sperm DNA fragmentation was quantified using the sperm chromatin dispersion (SCD) test (Halosperm kit-Indas Labora tories, Madrid Spain) which allows to express the spermatic DNA fragmentation as a percentage index (DFI: DNA Fragmentation Index). On the basis of the usual semino- logic criteria, 34 patients with varicocele showed isolat- ed asthenospermia, whereas spermatic concentration and morphology have normal values. Patients with severe dispermia in conjunction with abnormal standard semen parameters such as oligoas- thenotheratozoospermia (OAT) where 3%: in such case high levels of damaged sperm DNA are usually observed, consequently they were excluded from this study. Patients considered in this phase of the study were there- fore characterized by asthenozoospermia with various degrees of motility, ranging from 5-45% of the progres- sive linear a+b motility, according to the cut-off of nor- mal sperm motility established by WHO, where a+b is greater than or equal to 50% values. The degree of DNA damage in spermatozoa of these patients with only altered motility parameter was then correlated with the a+b motility seminal parameter. ANALYSIS OF SPERM DNA FRAGMENTATION Spermatozoon DNA fragmentation was quantified using Halosperm (Diasint-CGA, Florence-Italy) which has been used in the well-developed sperm chromatin dispersion (SCD) test (16, 17). The basis of the technology lies in the differential response offered by the nuclei of sperma- tozoa with fragmented DNA compared to those with their DNA intact. The controlled denaturation of the DNA followed by the extraction of the nuclear proteins, gives rise to partially deproteinized nucleoids in which the DNA loops expand, forming halos of chromatin dispersion. The nucleoid, which corresponds to the massively depro- teinized nucleus of the spermatozoon, is composed of two parts: spermatozoon nucleus silhouette, called the “core”, positioned centrally, and a peripheral halo of chro- with negative impact on sperm plasma membranes which contain higher amounts of polyunsaturated fatty acids (PUFA) which easily experience lipid peroxidation by ROS (9, 10). It is a result of cascade of events including lipid peroxidation (LPO) of sperm plasma membrane that ultimately affect an axonemal protein phosphorylation and sperm immobilization (9-11). These spermatozoa would therefore not only be particularly susceptible to reactive oxygen species (ROS) (12), with compromised membrane fluidity and integrity and greatly reduced motility (11-13). Metanalysis studies support this hypothesis, demonstrating that infertile patients with varicocele have higher levels of ROS when compared to other typologies of infertility and controls (14, 15). In addition, the seminal plasma of varicocele patients exhib- ited reduced total antioxidant capacity (TAC) (7, 15-18). Recently, various studies have also demonstrated that an elevated presence of DNA fragmentation is present in the spermatozoon nuclei of infertile patients with clinical varicocele (19, 18). Interestingly, DNA damage are higher when compared to spermatozoon of patients suffering from other types of infertility; moreover the spermatozoon of infertile varicocele patients exhibit higher levels of ROS, suggesting correlation between oxidative damage and DNA fragmentation. Studies using rat models have confirmed this, demonstrating that nitric oxide (NO) released by endothelial cells of dilated spermatic veins and peroxyni- trites generated from reaction with superoxide radicals cause intracellular oxidative damage (20-22), particularly regarding membrane lipid peroxidation, thus altering the integrity of chromatin in spermatozoon nuclei which may be a direct expression of such oxidative damage (17). In addition, sperms of varicocele patients exhibit elevated lev- els of 8-hydroxy-2 deoxyguanosine which are associated with a deficiency in the pro-oxidant defense system which would cause oxidative damage to the DNA by modifying the base, DNA strand breaks and chromatin cross linking, since spermatozoa have limited defense mechanisms against oxidative attack on their DNA mainly due to its exclusive structural composition for the complex packag- ing arrangement of DNA (18, 23, 24). Other indications of increased ROS in patients with varic- ocele are elevated quantities of cytoplasmic droplets in the young spermatozoa. The droplets are indicative of imma- ture and functionally defective spermatozoon (25-27) and, containing high concentrations of cytoplasmic enzymes such as G6PDH and SOD, are additional sources of ROS (21, 26). Together, these studies indicate a positive correlation between spermatozoon immaturity, elevated levels of ROS and increase of concentration of mature spermatozoa with damaged DNA in ejaculates of these patients (21, 25-27). Therefore, in this study, DNA fragmentation in sperma- tozoa of infertile individuals diagnosed with clinical varicocele was quantified with respect to infertile men and controls. In addition, the amount of DNA fragmen- tation was correlated to sperm motility. MATERIALS AND METHODS One hundred and fifty subjects analyzed in this study ranged in age between 20-50 with the median age of 35 Peluso_Stesura Seveso 18/04/13 10:57 Pagina 9 Archivio Italiano di Urologia e Andrologia 2013; 85, 1 G. Peluso, A. Palmieri, P.P. Cozza, G. Morrone, P. Verze, N. Longo, V. Mirone 10 Sperm cells with very small halos, without halos, and without halo-degraded contain fragmented DNA. Nucleoids that do not correspond to sperm cells were sep- arately scored. STATISTICAL ANALYSIS All data were calculated as average + standard deviation on experiments which were repeated and analyzed sta- tistically using the statistical program SPSS. The statisti- cal tests used were Student’s t for continuous values and c2 for parametric values. In addition, statistical correla- tion was used to test non-linear regression with evalua- tion of the correlation coefficient. RESULTS The concentration of nemasperms in varicocele patients included in the study, was significantly lower than that of controls (19.8 + 6.5 e 39.7 + 7.1 respectively: P < 0.01. Motility (type a+b) considered was also significantly lower than that of controls (30.4 + 9.7 and 49.9 + 8.5 respectively: P < 0.01). In addition, the frequency of DNA damage in nemasperms of infertile patients with varicocele (% DFI) was statistically higher comparised with infertile patients without varicocele (25.8 + 3.2 and 17.4 + 2.8 respectively: P < 0.01: figure 1). Besides the DFI of patients with varicocele was higher compared to values in patients with varicocele and infertile patients for other causes. As a whole the values measured is reported in Figure 1. Subsequently the values were grouped together, for everyone of the two categories of patients, referred to threshold values, established equal to 15, 20, 25, 30, 35, and 45. These values referred to conditions in a range from normality to extreme pathological condition. Therefore the average values of groups under each threshold value were calculated, and the comparison is showed in the Figure 2. The average of these groups were evaluated for differences matin/DNA dispersion. Likewise, when DNA fragmenta- tion is present, the nucleoid do not exhibit a dispersion hallow or, if present, is negligible. The tail of the spermatozoon is visible and serves as an important morphological parameter to distinguish the nuclei of nemaspermic cells from others. An aliquot of each sperm sample was diluted in phos- phate buffer solution (PBS) to a concentration of 5 mil- lion/ml; 25 μl of each sample was mixed and resuspend- ed in fused agarose microgel, as provided by the kit. 20 μl of semen-agarose mix was pipetted onto an agarose pre- coated slide, provided in the kit, and covered with a 22-x 22-mm coverslip. The slide was placed on a cold plate in the refrigerator (4°C) for 5 minutes to allow the agarose to produce a microgel with the sperm cells trapped. The coverslip was gently removed and the slide immediately immersed horizontally in a denatured solution, previous- ly prepared by mixing 80 μl of HCL from an Eppendorf tube in the kit, with 10 ml of distilled water, and incu- bated for 7 minutes at room temperature before transfer to 10 ml of lysing solution and left to incubate for 25 min- utes. After washing 5 minutes in a tray with abundant distilled water, the slides were dehydrated in increasing ethanol bath (70%-90%-100%) for 2 minutes each and air dried at room temperature. For the latter, the slides were horizontally covered with a mix of Wright’s solution (Merck, Darmstadt, Germany) and phosphate buffer solution (Merck) (1:1) for 5 to 10 minutes, with continuous airflow. Then the slides were briefly washed in tap water and allowed to dry. Strong staining is preferred to easily visu- alize the periphery of the dispersed DNA loop halos. A minimum of 500 spermatozoa for sample were scored under the 100x objective of the microscope. SCORING CRITERIA The categorization of the different halo sizes is per- formed using the minor diameter of the core from the own nucleoid as a reference to which the halo width is compared. Five SCD patterns were estab- lished (28): a) Sperm cells with large halos: those whose halo width is similar or higher than the smallest diameter of the core. b) Sperm cells with medium- size halos: the halo size is between those with high and with very small halo. c) Sperm cells with very small-size halo: the halo width is similar or smaller than one third of the minor diameter of the core. d) Sperm cells without a halo. e) Sperm cells without a halo-degraded: similar to point d), but weakly or irregularly stained. Figure 1. Comparison of DNA Fragmentation Index (DFI) experimentally evaluated for infertile men affected from varicocele (dots) or other causes (linees). Peluso_Stesura Seveso 18/04/13 10:57 Pagina 10 11Archivio Italiano di Urologia e Andrologia 2013; 85, 1 The study of spermatic DNA fragmentation and sperm motility in infertile subjects such as varicocele-DFI infer- tile-DFI. Such differences were correlated to the DFI values of the two categories and revealed that such differences were always positive and higher for patients with varicocele (Fi - gure 3). Therefore, the most significant data of our study came from the analysis of correlation between the DFI values calcu- lated and progressive a+b motility values expressed in % and calculated in patients with varicocele associated with the condition of isolated astheno- zoospermia. Statistical analysis of the data found a semi-empirical corre- lation of 0.9982 between the index of percentage fragmen- tation (DFI) and percentage sperm motility according to the: Eq.1: DFI = 49,48*EXP (- 0,022*motility), as seen in Figure 4. DISCUSSION While varicocele is one of the most common adrological pathologies in the general population, it is particularly common in infertile men (2). That varicocele negatively influences spermatic function is well documented (29, 30), although the exact underlying mechanisms are still not understood. In fact, infertility may be associated to a variety of spermatogenetic conditions ranging from normozoosper- mia to moderate oligoas- thenoteratozoospermia (OAT), to azoospermia (4, 5). Recently, several authors have suggested that human patients with varicocele have a signifi- cantly higher DNA fragmentation index (27). Studies show that varicocele samples contain a higher proportion of spermatozoa with abnormal DNA and immature chro- matin than those from fertile men as well as infertile men without varicocele (31). A cause of this phenomena may be the increased production of ROS in varicocele patients which is significantly higher in patients diagnosed with 2° and 3° degree varicocele in whom altered sperm motility is common in these patients (8, 32). An enhancement in OS, both due to an increase in ROS production and a decrease in the antioxidant capacity, has been reported in men with varicocele (16, 17, 33, 34). NO and peroxynitrite, a potent oxidant ROS, have been demonstrated to be produced in high concentrations in the dilated spermatic veins, so they could be main con- tributors to the high OS level in varicocele (20, 22, 35). In addition NO can improve sperm DNA fragmentation that is associated with infertility in men with varicocele (36). Besides the dilated veins, ROS may be released in the seminiferous tubules by the cytoplasmic droplets retained in immature spermatozoa, which seem to be fre- quent in the sperm samples from infertile men with Figure 2. Comparison of DNA Fragmentation Index (DFI) experimental evaluated from different groups of infertile men. For each group, the threshold value has been selected on the basis of different relevance of the pathology. Figure 3. Detailed comparison of the relevance of the varicocele on the DNA Fragmentation Index (DFI) for infertile men. It’s evident that DFI% is higher for varicocele infertile men. Peluso_Stesura Seveso 18/04/13 10:57 Pagina 11 Archivio Italiano di Urologia e Andrologia 2013; 85, 1 G. Peluso, A. Palmieri, P.P. Cozza, G. Morrone, P. Verze, N. Longo, V. Mirone 12 varicocele (37). Immaturity is a consequence of defec- tive spermiogenesis that could also lead to differences in disulfide crosslinking and in susceptibility toward DNA fragmentation (38, 39). Because all the varicocele samples in this study showed abnormal standard semen parameters, we compared them with those from idiopathic infertility, either nor- mozoospermic patients and from patients with abnormal semen parameters, all attending the infertility clinic. Significant differences were found between the 3 groups in the frequency of sperm cells with fragmented DNA using the Halosperm kit, particulary between the varico- cele group and the infertile group, except those samples with more intense and combined abnormalities that could have more frequency of sperm cells with frag- mented DNA. Results of our study, on the higher frequency of DNA fragmentation presented in the sperm cells of infertile patients with varicocele compared to patients suffering from other typologies of infertility and the fertile con- trols, supporting the hypothesis which has been pro- posed by other authors. Besides, a higher proportion was evidenced in our varic- ocele samples in relation to the fertile controls. In addition, we also found a high inverse correlation between low sperm motility and index of DNA fragmen- tation in sperms of varicocele patients and patients man- ifesting isolated asthenozoospermia. These findings suggest that a common pathological mechanisms underlies this pathological condition. This mechanism may be the presence of ROS or other types of agents which compromise the energetic metabolism of gametes (32, 40). These can react negatively upon sperm membranes, prob- ably by disrupting the equilibrium between antioxidants and prooxidant. In addition, these can also act upon genomic integrity and chromatin structure of the sperma- tozoon, damaging sperm cell DNA (36, 41). The fact that sperms of subjects with varicocele exhibit higher levels of DNA damage with respect to sperms from other typologies of infertility, even when normal seminal parame- ters are attained, clearly demonstrate the importance of studying sperm DNA fragmen- tation (29). 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Verdi 82/d - 87036 Rende (CS), Italy pina.peluso@libero.it Pietro Paolo Cozza, MD Giancarlo Morrone, MD U.O.S. of Andrology and Physiophatology of Reproduction A.O. of Cosenza, Italy Alessandro Palmieri, MD Paolo Verze, MD Nicola Longo, MD Vincenzo Mirone, MD Urological Clinic, University Federico II of Naples, Italy Peluso_Stesura Seveso 18/04/13 10:57 Pagina 13