ABSTRACT
The male factor contributes to 50% of infertility. The cause of male infertility is idiopathic and could be congenital or acquired. Among different factors which are involved in idiopathic male infertility, genetic factors are the most prevalent causes of the disease. Considering, the high prevalence of male infertility in Iran and the importance of genetic factors in the accession of it, in this article we reviewed the various studies which have been published during the last 17 yr on the genetic basis of male infertility in Iran. To do this, the PubMed and Scientific information database [SID] were regarded for the most relevant papers published in the last 17 yr referring to the genetics of male factor infertility using the keywords ''genetics'', "cytogenetic", ''male infertility", and "Iranian population". Literatures showed that among the Iranian infertile men Yq microdeletion and chromosomal aberrations are two main factors that intervene in the genetics of male infertility. Also, protamine deficiency [especially P2] is shown to have an influence on fertilization rate and pregnancy outcomes. The highest rate of sperm DNA damages has been found among the asthenospermia patients. In several papers, the relation between other important factors such as single gene mutations and polymorphisms with male infertility has also been reported. Recognition of the genetic factors that influence the fertility of Iranian men will shed light on the creation of guidelines for the diagnosis, consultation, and treatment of the patients
ABSTRACT
Background: Genetic and environmental factors are both involved in the etiology of Non-Alcoholic Fatty Liver Disease [NAFLD]. Among the genetic factors, certain polymorphisms of adiponectin gene are associated with NAFLD. In the current study, we investigated the association between metabolic parameters with different genotypes of adiponectin +276 G>T polymorphism among the Iranian NAFLD patients, and the effect of nutritional intake with development of NAFLD
Methods: In this study, 75 patients with NAFLD and 76 healthy individuals were enrolled. Dietary intakes were assessed using a semi- quantitative Food-Frequency Questionnaire [FFQ]. Body Mass Index [BMI] and Waist to Hip Ratio [WHR] were calculated. Biochemical assays including FSG [Fasting Serum Glucose], liver enzymes, lipid profiles, Malondialdehyde, insulin resistance and Total Antioxidant Capacity [TAC] were measured after 12 hr fasting. Gene polymorphism study was done by using of sequencing method
Results: Although, T allele frequency was more prevalent in patients with NAFLD than control, adiponectin +276 G>T polymorphism was not associated with risk of NAFLD. Among the metabolic parameters, TAC in TT genotype was significantly lower 1.44[0.69 to 2.81] p>0.05, AST in GT, GG genotypes, and ALT in all three genotypes were higher in NAFLD patients in compared to healthy subjects [p<0.05]. Patients with GT genotype have significantly lower fat consumption and vitamin E intake as compared to control group with the same genotype [p<0.05]
Conclusion: In this study, we showed the association of different genotypes of +276 G>T polymorphism in adiponectin gene with some metabolic parameters
ABSTRACT
Animal model studies have shown that MSY2 and JHDM2A genes have an important role in spermatogenesis process and fertility of male mice. But the potential role of these genes in human spermatogenesis and fertility is not known yet. Therefore, we evaluated expression ratios of these genes in testis tissues of men with normal and impaired spermatogenesis. In this experimental study, after RNA extraction and cDNA synthesis from 50 non-obstructive azoospermic and 12 normal testis tissues, the expression ratios of genes were evaluated by real time polymerase chain reaction [PCR] technique. Hematoxcylin and eosin [H and E] staining was used for histological classification of testis tissues. For statistical analysis, one way analysis of variance [ANOVA] test was carried out. Our results showed a significant reduction in mRNA level of YBX2 in samples with impaired spermatogenesis [p<0.001] compared to samples with qualitatively normal spermatogenesis and normal spermatogenesis; however, in JHDM2A gene, despite sensible reduction in gene expression level in men with impaired spermatogenesis, no significant differences were shown [p>0.05]. Furthermore in YBX2, a significant negative correlation was demonstrated between the efficiency score of spermatogenesis and the threshold cycle [CT] [r=-0.7, p<0.0001], whereas in JHDM2A, this negative correlation was not significant [r=-0.4, p=0.06]. Generally, these data indicated that YBX2 and JHDM2A genes may play an important role in male infertility, and suggested that these molecules can act as useful biomarkers for predicting male infertility
ABSTRACT
Although aberrant protamine [PRM] ratios have been observed in infertile men, the mechanisms that implicit the uncoupling of PRM1 and PRM2 expression remain unclear. To uncover these mechanisms, in this observational study we have compared the PRM1/PRM2 mRNA ratio and mRNA contents of two regulatory factors of these genes. In this experimental study, sampling was performed by a multi-step method from 50 non-obstructive azoospermic and 12 normal men. After RNA extraction and cDNA synthesis, real-time quantitative polymerase chain reaction [RT-QPCR] was used to analyze the PRM1, PRM2, Y box binding protein 2 [YBX2] and JmjC-containing histone demethylase 2a [JHDM2A] genes in testicular biopsies of the studied samples. The PRM1/PRM2 mRNA ratio differed significantly among studied groups, namely 0.21 +/- 0.13 in azoospermic samples and -0.8 +/- 0.22 in fertile samples. The amount ofPRM2 mRNA, significantly reduced in azoospermic patients. Azoospermic men exhibited significant under expression of YBX2 gene compared to controls [P=0.001]. mRNA content of this gene showed a positive correlation with PRM mRNA ratio [R=0.6, P=0.007]. JHDM2A gene expression ratio did not show any significant difference between the studied groups [P=0.3]. We also observed no correlation between JHDM2A mRNA content and the PRM mRNA ratio [R-0.2, P=0.3]. We found significant correlation between the aberrant PRM ratio [PRM2 under expression] and lower YBX2 mRNA content in testicular biopsies of azoospermic men compared to controls, which suggested that downregulation of the YBX2 gene might be involved in PRM2 under expression. These molecules could be useful biomarkers for predicting male infertility
ABSTRACT
Irradiation is one of the major causes of induced sperm DNA damage. Various studies suggested a relation between sperm DNA damage and fertilization rate after intra-cytoplasmic sperm injection [ICSI]. In this study, fertilization rate and premature chromosome condensation [PCC] formation after ICSI of hamster oocytes with irradiated sperms from normal and oligosperm individuals was investigated. Human sperms were classified according to counts to normal and oligosperm. Ten samples were used for each group. Golden hamster oocytes were retrieved after super ovulation by PMSG and HCG injection. From retrieved oocytes, 468 were in metaphase II. Control and 4 Gy gamma irradiated sperms were then injected into oocytes. After pronuclei formation in injected oocytes and formation of 8 cells embryos, slides were prepared using Tarkowskie's standard air-drying technique. The frequency of embryos and PCC were analyzed using 1000x microscope after staining in 5% Giemsa. The extent of embryo development in oocytes injected by irradiated sperms was lower than those injected by non-irradiated sperms [p=0.0001]. The frequency of PCC in failed fertilized oocytes was significantly higher in oligosperms [46%] compared with normal ones [0%], but there was no significant difference between irradiated and non-irradiated samples in each group [p=0.12]. The results showed that irradiation of sperms might influence the fertilization outcome possibly due to sperm DNA damage. One possible cause of precluding oocytes from fertilization in oligosperm individuals might be the formation of PCC.