Evolving evidence on a link between the ZMYM3 exceptionally long GA-STR and human cognition.

The human X-linked zinc finger MYM-type protein 3 (ZMYM3) contains the longest GA-STR identified across protein-coding gene 5' UTR sequences, at 32-repeats. This exceptionally long GA-STR is located at a complex string of GA-STRs with a human-specific formula across the complex as follows: (GA)8-(GA)4-(GA)6-(GA)32 (ZMYM3-207 ENST00000373998.5). ZMYM3 was previously reported among the top three genes involved in the progression of late-onset Alzheimer's disease. Here we sequenced the ZMYM3 GA-STR complex in 750 human male subjects, consisting of late-onset neurocognitive disorder (NCD) as a clinical entity (n = 268) and matched controls (n = 482). We detected strict monomorphism of the GA-STR complex, except of the exceptionally long STR, which was architecturally skewed in respect of allele distribution between the NCD cases and controls [F (1, 50) = 12.283; p = 0.001]. Moreover, extreme alleles of this STR at 17, 20, 42, and 43 repeats were detected in seven NCD patients and not in the control group (Mid-P exact = 0.0003). A number of these alleles overlapped with alleles previously found in schizophrenia and bipolar disorder patients. In conclusion, we propose selective advantage for the exceptional length of the ZMYM3 GA-STR in human, and its link to a spectrum of diseases in which major cognition impairment is a predominant phenotype.

Effect of B9 and B12 vitamin intake on semen parameters and fertility of men with MTHFR polymorphisms.

The methylenetetrahydrofolate reductase (MTHFR) gene codes a crucial enzyme which involve in folate metabolism. The effect of MTHFR gene polymorphisms on male fertility status is uncertain and controversial. We evaluated the effect of B vitamin family intake on total homocysteine content and semen parameters of men with MTHFR gene polymorphisms. MTHFR genotypes frequency and serum total homocysteine concentration were measured among 280 men with impaired spermatogenesis (asthenospermia, oligospermia, severe oligospermia and azoospermia) and 85 control participants. B vitamin family dietary intakes were assessed using a semi-quantitative food-frequency questionnaire. In addition, concentrations of vitamins B9 and B12 were evaluated in serum samples of some participants (n = 60). We observed significantly higher frequency of TC or TT genotypes in C677T polymorphism among oligospermic, severe oligospermic and azoospermic men. CC genotype of A1298C polymorphism was significantly higher only in azoospermic men. Also, we observed critical effect of vitamin B9 and B12 intake on decreasing of total homocysteine and improving of semen parameters among the men with T allele of MTHFR C677T polymorphism. Our investigation showed that sufficient consumption of vitamins B9 and B12 influences sperm parameters of men with different MTHFR polymorphisms, especially genotypes with T allele.

Evaluating -238 G>A Polymorphism Association in TNF-α Gene with Metabolic Parameters and Nutritional Intakes Among the Iranian NAFLD Patients.

Different studies have shown that -238 G>A polymorphism in promoter region of tumor necrosis factor alpha (TNF-α) gene is associated with increased risk of non-alcoholic fatty liver disease (NAFLD). The current study investigates the association between metabolic parameters and nutritional intakes with -238 G>A of TNF-α promoter gene polymorphism among the Iranian patients with NAFLD. In this study, 75 patients with NAFLD and 76 individuals as control were enrolled. Dietary intakes were assessed using a semi-quantitative food-frequency questionnaire. Body mass index and waist to hip ratio were calculated. Biochemical assays were measured after 12 h fasting. -238 G>A Polymorphism of TNF-α gene was determined by using sequencing method. We observed no significant difference in frequency of different genotypes of this polymorphism between NAFLD and control groups (P > 0.05). Among biochemical parameters, TAC showed significant decrease in NAFLD patients with GG genotype when compared to controls (P = 0.001). The comparison of macro and micronutrient intakes between groups according to genotypes showed no statistically significant difference (P > 0.05). Although the data were not statistically significant, further studies with larger sample size are needed to determine the effect of dietary compounds in NAFLD.

Association of G/T(rs222859) polymorphism in Exon 1 of YBX2 gene with azoospermia, among Iranian infertile males.

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.

Emergence of plasmid-mediated quinolone-resistant determinants in Klebsiella pneumoniae isolates from Tehran and Qazvin provinces, Iran.

BACKGROUND: Plasmid-mediated quinolone resistance is an increasing clinical concern, globally. The major objective of the present study was to identify the qnr-encoding genes among the quinolone non-susceptible K. pneumoniae isolates obtained from two provinces in Iran. METHODS: A total of 200 K. pneumoniae isolates were obtained from hospitals of Qazvin and Tehran, Iran. The identification of bacterial isolates was carried out by standard laboratory methods and API 20E strips. Susceptibility to quinolone compounds were examined by standard Kirby-Bauer disk diffusion method according to the CLSI guideline. PCR and sequencing were employed to detect qnrA, qnrB and qnrS-encoding genes. RESULTS: Of 200 K. pneumoniae isolates, 124 (62%) were nonsusceptible to quinolone compounds among those 66 (53.2%) and 58 (46.8%) isolates showed high and low-level quinolone resistance rates, respectively. Out of 124 quinolone non-susceptible isolates, qnr-encoding genes were present in 49 (39.5%) isolates with qnrB1 (30.6%) as the most dominant gene followed by qnrB4 (9.7%), and qnrS1 (1.6%) either alone or in combination. CONCLUSIONS: This study, for the first time, revealed the high appearance of qnrB1, qnrS1 and qnrB4 genes among the clinical isolates of K. pneumoniae in Iran. Therefore, the application of proper infection control measures and well-established antibiotic administration guideline should be strictly considered within our medical centers.

Assessment of helicobacter pylori prevalence by scorpion real-time PCR in chronic tonsillitis patients.

BACKGROUND: Occasionally, bacteria or viruses enter the tonsils and these organs become overwhelmed by bacterial or viral infection leading to inflammation. Some studies confirmed the presence of Helicobacter pylori in tonsillar specimens of patients suffering from chronic tonsillitis and some others did not. The difference in results in various studies might be due to different laboratory methods. The aim of this study was to investigate the presence of H. pylori Deoxynucleic acid (DNA) in archival tonsillar tissues of patients with chronic tonsillitis by a rapid, sensitive, and specific technique of Scorpion real-time polymerase chain reaction (PCR). MATERIALS AND METHODS: Scorpion real-time PCR and modified McMullen's staining was performed on 103 archival paraffin-embedded tonsillar samples collected from patients with chronic tonsillitis following tonsillectomy operation. RESULTS: Our findings showed that H Cell and Molecular Research Center. pylori DNA was present in 21.35% of total specimens by using Scorpion real-time PCR. Modified McMullen's staining of paraffin-embedded sections was positive in 19 patients. Out of our 103 samples, 50 samples showed positive a rapid urease test whereas 53 samples demonstrated negative results, 20 produced positive PCR results, and 83 were negative for H. pylori. There was no significant relationship between the presence of H. pylori, sex, age, and place of residence. CONCLUSION: Although the existence of H. pylori in tonsillar tissue samples of patients with chronic tonsillitis is controversial, however, our results showed that in our studied specimens, a significant number of patients with chronic tonsillitis had H. pylori colonization.