The flavonoid quercetin has recently been reported to have neuroprotective effects, and the role of the gamma-aminobutyric acid A alpha 5 subunit (GABA α5) receptor has been determined in some nervous system disorders. The aim of this study was to identify the molecular mechanism of the effect of quercetin administered at anticonvulsive doses on the expression of the GABA α5 receptor gene in kainic acid (KA)-induced seizures in mice. The experimental animals were divided into four groups: control, KA, and KA + quercetin at 50 or 100 mg/kg, respectively. The results showed a dose-dependent reduction in the behavioral seizure score with quercetin pre-treatment in the KA mouse model. Two hours after the end of the 7-day treatment regimen, expression of the GABA α5 receptor gene in the hippocampus was found to be increased in the KA group, but this increase was reduced in the KA + quercetin 50 or 100 mg/kg treatment groups. These results suggest that expression of the GABA α5 receptor could be a mechanism for reducing seizure severity or may be a marker of seizure severity. Further studies are necessary to clarify quercetin's mechanism of action and the relation of GABA α5 receptor gene expression to seizure severity.

Phenylketonuria (PKU) is an autosomal recessive disease which results from mutations in the phenylalanine hydroxylase (PAH) gene. The aim of this study was the identification of sixteen different mutations in Iranian patients with hyperphenylalaninemia. The mutations were detected during the characterization of PAH genotypes of 39 PKU patients from Qazvin and Zanjan provinces of Iran. PAH mutations have been analyzed by PCR and direct sequencing of PCR products of the promoter region and all 13 exons of PAH gene, including the splicing sites. A mutation detection rate of 74.3 % was realized. Two mutations were found at high frequencies: R176X (10.25 %) and p.P281L (10.25 %). The frequencies of the other mutations were: IVS2+5G>A (2.56 %), IVS2+5G>C (2.56 %), p.L48S (2.56 %), p.R243Q (2.56 %), p.R252Q (5.12 %), p.R261Q (7.69 %), p.R261X (5.12 %), p.E280K (2.56 %), p.I283N (2.56 %), IVS9+5G>A (2.56 %), IVS9+1G>A (1.28 %), IVS11+1G>C (1.28 %), p.C357R (1.28 %), c.632delC (2.56 %). The present results confirm the high heterogeneity of the PAH locus and contribute to information about the distribution and frequency of PKU mutations in the Iranian population.

Genetic factors have an important role in the pathophysiology of endometriosis. In addition, abnormalities in lipid profile and intrinsic inflammatory status are associated with disease progression. The purpose of this study was to evaluate the effect of the I405V polymorphism of cholesteryl ester transfer protein (CETP) gene and lipid profile with the risk of endometriosis in women. Ninety-seven women with laparoscopy-diagnosed endometriosis were recruited for this study, and 107 patients with no evidence of endometriosis confirmed by laparoscopy served as controls. Samples were analyzed for polymorphism of the CETP gene using polymerase chain reaction-restriction fragment length polymorphism-based methods. After adjustment for body mass index, high-density lipoprotein-C and low-density lipoprotein-C, the risk of endometriosis in patients with normal genotype homozygous was more of the rare allele (p < 0.001, odds ratio = 0.21, 95% confidence interval = 0.09-0.45). Our results suggest that I405V polymorphism of CETP gene plays an important role as independent factor in the risk of endometriosis in women.

Objectives:Quercetin is a flavonoid and an important dietary constituent of fruits and vegetables. In recent years, several pharmacological activities of quercetin, such as its neuroprotective activity and, more specifically, its anti-convulsant effects in animal models of epilepsy, have been reported. This study evaluated the role of quercetin pretreatment on gene expression of γ-amino butyric acid type A (GABAA) receptor beta subunits in kainic acid (KA)-induced seizures in mice.Methods:The animals were divided into four groups: one saline group, one group in which seizures were induced by using KA (10 mg/kg) without quercetin pretreatment and two groups pretreated with quercetin (50 and 100 mg/kg) prior to seizures being induced by using KA. Next, the messenger ribonucleic acid (mRNA) levels of the GABAA receptor β subunits in the hippocampus of each animal were assessed at 2 hours and 7 days after KA administration. Quantitative real-time polymerase chain reaction (RT-PCR) assay was used to detect mRNA content in hippocampal tissues.Results:Pretreatments with quercetin at doses of 50 and 100 mg/kg prevented significant increases in the mRNA levels of the β1 and the β3 subunits of the GABAA receptor at 2 hours after KA injection. Pretreatment with quercetin (100 mg/kg) significantly inhibited β1 and β3 gene expression in the hippocampus at 7 days after KA injection. But, this inhibitory effect of quercetin at 50 mg/kg on the mRNA levels of the β3 subunit of the GABAA receptor was not observed at 7 days after KA administration.Conclusion:These results suggest that quercetin (100 mg/kg) modulates the expression of the GABAA receptor β1 and β3 subunits in the KA model of epilepsy, most likely to prevent compensatory responses. This may be related to the narrow therapeutic dose range for the anticonvulsant activities of quercetin.

Animal model studies have shown that MSY2 gene has a potential role in spermatogenesis. Some mutations on this gene have been proposed to be associated with human male infertility. In this study, polymorphisms of exon 1 of YBX2 gene have been investigated. A total of 276 men were evaluated. They included 96 men with normal spermatogenesis, 60 men with nonobstructive azoospermia, 60 men with oligospermia and 60 men with asthenospermia. We extracted DNA from blood and testis tissues of samples, and analysed polymorphisms of exon 1 by sequencing method. Moreover, YBX2 gene expression was studied by real-time PCR on blood and testis tissue of samples. Sequencing results showed that among the studied polymorphisms, frequency of TT genotype in rs222859 polymorphism was significantly higher in azoospermic patients compared to control group (P < 0.001). Azoospermic men exhibited significant underexpression of YBX2 gene in blood and testis samples in comparison with controls, oligosperm and asthenosperm samples (P < 0.001), but there was no significant difference in gene expression of YBX2 gene in blood and testis tissues of azoospermic men, with and without mutation (P > 0.05). According to our results, the alterations of this gene might be involved in azoospermia among Iranian population.