Gene, Cell and Tissue
Volume:1 Issue: 1, Apr 2014

It has been proposed that the patients with mitochondrial diseases usually manifest systemic metabolic disorders. The metabolic syndrome (MeS), a cluster of several metabolic disorders, is increasingly being recognized as a risk factor for type 2 diabetes (T2D) and cardiovascular disease.. The aim of study was to investigate the possible association between promoter methylation of mitochondrial transcription factor A (TFAM) and MeS..Patients and DNA was extracted from peripheral blood of 151 patients with and 149 without MeS.. TFAM promoter methylation was evaluated by a nested methylation-specific PCR (nested MSP).. No association was found between TFAM promoter methylation and MeS. The present study suggests that the TFAM promoter methylation is not associated with risk of MeS..

Uterine leiomyoma (ULs) is the most common gynecological tumor and a significant health concern for many women. The interleukin-1 receptor antagonist (IL-1Ra) is a naturally occurring cytokine inhibiting interleukin- 1 (IL-1) activity by binding to the IL-1 receptors without signal transduction.. The aim of this study was to investigate the association between interleukin-1 receptor antagonist gene variable number of tandem repeat (VNTR) polymorphism and ULs in women of the South- East of Iran..Patients and A total number of 99 patients with leiomyoma and 102 controls were studied. Genotyping of IL-1Ra (VNTR) polymorphism was determined by gel electrophoresis after PCR amplification. Frequency of alleles and genotypes in patients and control group was statistically analyzed using χ2 test or fisher exact test.. The frequency of alleles 1, 2 and 3 of IL-1Ra VNTR polymorphism were %71, %27 and %22 in control group and %74, %20 and %6 in the ULs patients, respectively and there were no significant differences between these two groups. No statistically significant differences were observed between the frequency of IL-1Ra genotypes in the study and control groups.. This study showed that 86bp VNTR polymorphism of IL-1Ra gene is not associated with leiomyoma in the studied population.

The main source of 5-HT in body is in enterchromafin cells of intestine, different studies mentioned different roles for endogenous 5-HT and receptors involved and it is not clearified the mechanism of action of endogenous 5-HT.. To study the role of endogenous 5-HT on modulation of contraction and relaxation responses induced by electrical field stimulation (EFS) in different regions of the rat intestine.. Segments taken from the rat duodenum, jejunum, mid and terminal ileum were vertically mounted, connected to a transducer and exposed to EFS with different frequencies in the absence and presence of various inhibitors of enteric mediators i. e. specific 5-HT receptor antagonists.. EFS-induced responses were sensitive to TTX and partly to atropine, indicating a major neuronal involvement and a cholinergic system. Pre-treatment with WAY100635 (a 5-HT1A receptor antagonist) and granisetron up to 10.0 µM, GR113808 (a 5-HT4 receptor antagonist), methysergide and ritanserin up to 1.0 µM, failed to modify responses to EFS inall examined tissues. In the presence of SB258585 1.0 µM (a 5-HT6 receptor antagonist) there was a trend to enhance contraction in the proximal part of the intestine and reduce contraction in the distal part. Pre-treatment with SB269970A 1.0 µM (5-HT7 receptor antagonist) induced a greater contractile response to EFS at 0.4 Hz only in the duodenum.. The application of 5-HT1A, 5-HT2, 5-HT3, 5-HT4, 5-HT6 and 5-HT7 receptor antagonists, applied at concentrations lower than 1.0 µM did not modify the EFS-induced contraction and relaxation responses, whichsuggests the unlikely involvement of endogenous 5-HT in mediating responses to EFS in the described test conditions.

Congenital factor XIII (FXIII) deficiency is a rare severs autosomal recessive bleeding disorder.. The aim of the study was to determine the c559T > C FXIIIA genotype frequency in patients with FXIII hemophilia who lived in Sistan and Balouchestan province in southeast of Iran..Patients and We determined the genotype of 180 patients with Factor XIII hemophilia by tetra-primer amplification refractory mutation system-polymerases chain reaction (T-ARMS-PCR).. The frequency of C559T > C was 96.6% and T-ARMS-PCR was an efficient tool for detecting this genotype. Moreover, the result showed that C559T > C mutation was a risk factor for FXIIIA deficiency in a sample of Iranian population.. Due to highest prevalence of FXIII deficiency (70 times higher than the global average), FXIII deficiency must be consider as the most underdiagnosed bleeding disorder in this area. Hence, proper screening systems alongside common screening tests to identify carriers seem necessary. Due to the limited mutations, T-ARMS-PCR with sound speed, accuracy, sensitivity, and cheapness can be used to screen for these mutations.

The association between tumor necrosis factor-alpha (TNF-α) (-308 G/A) gene polymorphisms and level of tissue destruction and periodontal disease progression is not proved. The present study investigated the stereological parameters of interdental papilla in chronic periodontitis (CP) patients with TNF-α (-308 G/A) gene polymorphisms.. Sixty gingiva samples were studied. After determination of TNF-α (-308 G/A) gene polymorphisms using a tetraamplificationrefractory mutation system-polymerase chain reaction (T-ARMS-PCR) technique, 45gum tissues of CP patients (40 GG, 4 GA+1 AA genotype) were considered as the case group. Fifteencontrol samples were also collected from healthy individuals. Interdental gingiva tissues were fixed in Lilli’s solution and after tissue processing were exhaustively sectioned into 4μm thick sections. Ten to 13 sections were sampled by systematic uniform random sampling (SURS), stained with Masson’s trichrome and then the volume fractions; volume per unit volume (Vv) of the gingival components were estimated using Cavalier’s point counting method.. There were statistically significant differences in the Vv of epithelium, connective tissue, collagenous and non-collagenous matrix and blood vessels between the control and CP groups (P < 0.0001). There were no statistically significant differences in the Vv of epithelium, connective tissue of gingiva, collagenous and non-collagenous matrix and blood vessels between GG, GA, and AA genotypes in CP patients (P > 0.05). . Results of the current study showed that there wasno association between TNF-α (-308 G/A) gene polymorphisms and quantitative parameters of interdental papilla in CP patients.

Tuberculosis is still a health problem throughout the world. Both genetic and environmental factors may contribute the susceptibility to tuberculosis. Toll-like receptors play a critical role in the recognition of mycobacterium tuberculosis (TB).. The aim of this study was to evaluate the possible association between TLR8 rs3764880 and TLR9 rs148805533 polymorphisms and pulmonary tuberculosis (PTB) in a sample of Iranian population..Patients and In this study, blood samples of 320 subjects including 160 PTB patients and 160 healthy subjects were collected. DNA was extracted and TLR8 rs3764880 polymorphism was analyzed by Tetra Amplification Refractory Mutation System-Polymerase Chain Reaction (TARMS-PCR) and TLR9 rs148805533 polymorphisms was analyzed by allele specific PCR.. The allelic and genotypic frequencies of the TLR8 rs3764880 did not differ significantly between PTB and the controls. No significant difference was found between the groups regarding TLR9 rs148805533 polymorphism.. TLR8 rs3764880 and TLR9 rs148805533 polymorphisms may not be risk factors for susceptibility to tuberculosis in a sample of Iranian population. Larger studies are required to validate our findings.

Apo-lipoprotein E (APOE) and Carnitine palmitoyltransferase1-A (CPT1-A) genes are well known to be involved in the pathophysiology of psychiatric disorders such as schizophrenia but regarding their CPG island methylation status data is sparse.. The aims of the current study were to highlight the effect of the promoter “hypermethylation” in the development of SCZ..Patients and Genomic DNA was extracted from peripheral blood of 80 patients with schizophrenia and 71 healthy controls. The Methylation pattern was studied using Methylation-Specific PCR. RNA expression analysis was performed on extracted RNA from blood samples of patients suffering from schizophrenia (n = 17) and healthy controls (n = 17).. Frequency of the APOE and CPT1-A methylation show insignificant relationship between cases and controls. Estimates of relative gene expression revealed no significant statistical association of the APOE and CPT1-A genes between schizophrenic patients and healthy controls.. This is the first evidence regarding APOE and CPT1-A gene methylation and their expression profile related to risk of schizophrenia which indicate no significant association between the APOE and CPT1-A gene methylation and development of schizophrenia.

Factor XIII deficiency is a rare bleeding disorder that presents various life threatening clinical manifestations such as central nervous system (CNS) and umbilical cord bleeding. Thisdisorder occurs due to different mutations and polymorphisms among which Val34Leu has associated with the majority of clinical features.. The current study aimed to evaluate the relationship between polymorphism and umbilical cord bleeding as the most common clinical feature in affected patients with FXIII deficiency in Sistan and Baluchistan province, Iran..Patients and This case control study was conducted on 12 FXIII deficient patients with umbilical cord bleeding as the case group and 15 patients with FXIII deficiency without umbilical cord bleeding as the control group. All the patients and controls were evaluated for Val34Leu polymorphism. Eventually, the obtained data were analyzed by SPSS software version 19.. Results of the current study showed no statistically significant association between FXIII Val34Leu and umbilical cord bleeding. In addition no statistically significant difference was found between the cases and the controls.. FXIII Val 34Leu polymorphism is not associated with umbilical cord bleeding.