Gene, Cell and Tissue
Volume:5 Issue: 4, Oct 2018

Intellectual disability or cognitive disturbance is a prevalent neurological problem determined by the low-level intelligence quotient (< 70). Intellectual disability affects approximately 1% to 3% of the general population. The collaboration of environmental factors and heterogeneous genetic agents can be a cause of intellectual disability in X-linked, autosomal dominant, recessive, and inheritance of mitochondria patterns. Spontaneous mutations in germ line may have vital phenotypic outcomes when involved in bases of the whole genome. Discovering the etiology of intellectual disability plays a role in precise diagnosis and can help the couple plan in the near future. Development of genome sequencing can improve mutation detection in a single experiment. These tools have been shown as a new way for the conception of the molecular pathway in a genetic disorder. This finding can have a profound implication for early diagnosis and treatment development. This study reviewed recent reports of de novo mutations detection of intellectual disability in the Iranian population by whole exome sequencing approaches.

MicroRNA (miRNA) is one of the non-coding RNA (ncRNA) molecules with 21 - 25-nucleotide length, playing an important role in gene control by transcriptional gene regulation, chromatin remodeling, genetic imprinting, and translation initiation. The deregulation of ncRNA can lead to several hematopoietic malignancies such as acute lymphoblastic leukemia (ALL). The study aimed to draw the crucial features of miRNA in the pathogenesis of ALL. The findings showed that miRNA expression changes in ALL are typical and involve several signaling pathways. The variations in miRNA gene expression can lead to the incomplete expression of oncoprotein or tumor suppressor gene (TSG). It seems that ncRNAs play pivotal roles in the ALL pathogenesis. However, ncRNAs might be interested as potential diagnostic and prognostic biomarkers in ALL.

Staphylococcal food poisoning is one of the most common food borne diseases. Widespread incidence of antibiotic resistances of Staphylococcus aureus have been reported in the world. The bacterium causes this poising by producing different toxins. The aim of this study was to determine the presence of toxic shock syndrome toxin (TSST-1) and methicillin resistance (mecA) producing genes in isolated S. aureus from local cheese in northwest of Iran. A total of 22 S. aureus samples, already identified by biochemical tests for diagnosis of S. aureus, were isolated from local cheese, and identified as S. aureus with proliferation of thermonuclease species-specific gene (nuc) by PCR method. To determine the frequency of TSST-1 and mecA, genes were tested by PCR method. Of 22 S. aureus isolates, one case (4.54%) contained mecA gene and two cases (9.09%) possessed TSST-1 gene. None of the tested isolates harbored the intended genes simultaneously. The presence of S. aureus isolates in local cheese, which harbor toxic shock syndrome toxin (TSST-1) and methicillin resistance (mecA) genes, show that these isolates have high potential in producing toxic shock syndrome toxin and methicillin resistance; therefore, the use of procedures to reduce the bacterial contamination during the processing of dairy product is required.

One of the most important and frequently encountered pathogens in the poultry supply chain is Salmonella. A comprehensive insight into its pathology and its counteractive mechanisms towards antibiotics, thus, is much needed. The determination of phenotype and molecular susceptibility along with the detection of β-lactamase genes produced by Salmonella isolated from poultry meat was the objective of the present study. Additionally, this study is significant due to the prevalence of Salmonella in Ardabil, a city in the northwest of Iran. The present study aimed to analyze the susceptibility of Salmonella isolates (collected from the commercial broilers (CB) and spent hens (SH)) towards the β-lactam class of wide-spectrum antibiotics. Further, the phenotypes of the isolates were investigated based on their extended-spectrum β-lactamase (ESBL) production. The test samples were collected from a total of 100 chicken carcasses comprising 50 from the retail CB and 50 from the SH procured from a local supermarket in Ardabil city. The Salmonella isolates were then analyzed for the production of β-lactamase enzymes under the standard laboratory conditions. 20 Salmonella strains were isolated from the 100 samples, with 55% (11/20) from the CB and the remaining 45% (9/20) from the SH. The isolated Salmonella spp. showed multiple β-lactam resistance phenotypes and the presence of β-lactamase genes. blaTEM was found to be the dominant β-lactamase gene (85%), followed by blaCTX-M (60%) and blaSHV (35%). Using clinical and laboratory standards institute extended-spectrum β-lactamase (CLSI ESBL) confirmatory test, 100% of the isolates were found to be ESBL producers, as also confirmed by the PCR method. This study revealed that a significant number of antibiotic-resistant Salmonella was isolated from the retail poultry meat samples of the CB and SH. Mortality and morbidity rates increase with the increase in the resistance of bacteria to standard antibiotics. Therefore, microbiological surveillance for different isolates of Salmonella should be done at the country level to monitor its antimicrobial resistance. The prime purpose of the current study was to centralize the focus in this regard, via two advanced detection procedures comprising phenotypic and molecular detection of β-lactamases enzymes produced by Salmonella isolates from poultry meat.

Cytokines are an important factor in immune regulation. IL-6 is a cytokine with various biological activity. Splice variants of IL6, by interaction with dissimilar receptors (IL6-R and gp130), activate distinct signal transduction for regulating multiple biological processes. Shirazi thyme (Zataria multiflora), in traditional medicine, is used as an anti-inflammatory agent. In this study, the effect of Shirazi thyme hydro alcoholic extract, on the expression level of two different IL6 variants in human mesenchymal stem cells (MSCs), were studied. MSCs where cultured and treated in seven groups by two doses of 50 µgmL-1 and 100 µgmL-1 in three different times 2 hours, 16 hours, and 24 hours. RNA was extracted from harvested cells and cDNA was synthesized. IL6 mRNA level was evaluated by real-time qRT-PCR. 2-∆∆Ct was used for IL6 gene expression fold changes and statistically analyzed by t-test. Treatment with Shirazi thyme extract significantly reduced IL6 mRNA variant1 at all doses, and all the time, excepted in 50 µgmL-1 treatment after 16 hours, however, IL6 mRNA variant2 had increased level in all studied doses and times. Blocking IL6 signals or reducing its expression could be a theraptic approach for some inflammatory, malignant, or autoimmune diseases. Increased IL6 mRNA variant 2, also by increasing the sensitivity of cells to insulin and increasing the absorption of glucose and lipid metabolism, might be prevented adipose tissue expansion.

Bipolar disorder (BD) has episodes of depression and mania or hypomania. Several studies have been conducted on the role of genes in bipolar disorders and suicidal behaviors, and serotonin-associated genes, Tryptophan hydroxylase (TPH1 and TPH2), are proposed as one of the main effective genetic factors. In this study, 116 BD patients and 118 age and gender-matched healthy subjects were recruited as the control group. The polymorphisms of THP1 (rs1800532) and TPH2 (rs4570625) genes were identified using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. There was a positive association of bipolar disorder with CC genotype (P = 0.04) for TPH1 A218C polymorphism, yet not for other genotypes and alleles. There was no association for the genotype and allelic frequency distributions of TPH2-703G/T between bipolar patients and healthy control groups. The TPH1 and TPH2 gene polymorphisms are subjects of many researches. There are contradictions in investigations around the world. These results are in agreement with studies of other populations, yet are different from many studies. There is a need for further investigations.

Breast cancer (BC) is one of the most common cancers among women and is the main cause of cancer-related mortalities in the female population. The main cause of BC is not fully understood yet; however, many genes have been identified as risk factors that increase susceptibility to this disease. The aim of this study was to evaluate the expression of ABCC12 gene in patients with ductal breast carcinoma and its relationship with other biomarkers including estrogen receptor (ER), progesterone receptor (RP) and human epidermal growth factor receptor 2 (HER-2). This study included nine women diagnosed with ductal breast carcinoma as cases and five healthy women as controls. RNA extraction from breast tissue and cDNA synthesis were performed, and the expression of ABCC12 gene was evaluated using the real time polymerase chain reaction (PCR) method. After preparing formalin-fixed paraffin-embedded breast tissues, immunohistochemical evaluation of these samples and chromogenic in situ hybridization (CISH) of ER, PR and HER-2 were performed. The obtained results showed that the expression of ABCC12 gene in all the breast cancer tissues was 3.74 times higher than in controls (P = 0.007). Also, the expression of ABCC12 gene increased by 3.94 times in luminal B (P = 0.002), 3.54 times in HER-2 (1+) (P = 0.0006), 3.86 times in ER (+) (P = 0.002) and 3.63 times in PR (+) (P = 0.0005). Our study showed that the evaluation of the ABCC12 gene expression as a one of multi-drug resistance protein members can be used as a prognostic factor to identify the stages of BC and its therapeutic approaches.