Journal of Epigenetics
Volume:4 Issue: 1, Winter 2023

Oral squamous cell carcinoma (OSCC) is a frequently prevalent subtype of oral cancer with late detection and diagnosis and an elevated mortality rate. It can be triggered via genetic and environmental factors, creating several patient difficulties. The main concern is to comprehend the interaction between variables to explain the regulation of oral cancer, as well as the process of its occurrence. Nuclear factor kappa B (NF-κB) belongs to a class of induced transcription factors, controlling various genes responsible for several aspects of inflammation and immunological processes. It is regulated through diverse genes, such as TNF receptor-associated factor 1 (TRAF1) and TNF receptor-associated factor 2 (TRAF2). The disruption of this pathway may contribute to various health problems.

Eighteen paraffin-embedded oral cancer tissues and 18 oral mucosae tissues were applied to evaluate gene expression profiles via quantitative real-time PCR (qRT-PCR) in a population in Southeast Iran.

NF-κB (95% CI = -0.804 to -0.222, p-value = 0.001), TRAF1 (95% CI = -3.201 to -1.018, p-value < 0.0001), and TRAF2 (95% CI = -1.802 to -0.86, p-value = 0.019) gene expressions were revealed a strong correlation with OSCC.

Our findings revealed that the increased gene expression levels of NF-κB, TRAF1, and TRAF2 are closely linked to clinical manifestations in OSCC.

Gastric cancer (GC) ranks among the most prevalent cancers of the gastrointestinal (GI) tract and is responsible for many cancer deaths annually. The etiology of GC is believed to result from the cumulative damaging effects of genetic, epigenetic, and environmental factors during the individual’s lifetime. Dopamine receptor D1 (DRD1) represents the most abundant dopamine receptor in the central nervous system (CNS). Several dopaminergic pathways depend on the receptor to convey stimulatory dopamine signals. The current project has been designed to assess the gene expression and polymorphism of DRD1 (rs774034163 A>T) among Iranian patients suffering from GC in Isfahan.

ARMS PCR technique was used to assess rs774034163 A>T polymorphism in 91 paraffin blocks of stomach tissues (42 GC patients and 49 healthy subjects). Additionally, 41 samples (20 GC patients and 21 healthy subjects) were selected randomly to assess DRD1 gene expression using the qRT-PCR technique.

The ‘AT’ genotype of rs774034163 was not significantly associated with GC (OR = 0.65, 95% CI = 0.214-1.970, and p-value = 0.446); the ‘TT’ genotype was also not observed in our population. Regarding allele frequency, the ‘T’ allele is not correlated with GC (OR = 0.677, 95% CI = 0.235-1.948, and p-value = 0.469). Furthermore, the expression of the DRD1 gene in patients and healthy individuals demonstrated no noticeable difference (p-value = 0.835).

According to the results, rs774034163 A>T polymorphism is not associated with GC genotypically or allelically. Also, there is no correlation between increased gene expression levels of DRD1 and the pathogenesis of GC.

Gaucher Disease occurs more frequently in the offspring of familial marriages. With a wide variety of presentations, the long list of tests required to confirm GD in addition to those needed to rule out others puts a heavy financial burden on the patients, especially in regions where the majority live below the poverty line. Thus, in this study, we provide a familial screening method in patients whose relatives are confirmed GD cases, assuming that this approach might ease up the process.In this study, 26 patients out of 217, whose family members were GD patients and had symptoms associated with GD were selected. Enzyme assay levels using Dried-Blood Samples from 3ml of samples were measured. Those with low levels of enzyme assay were further tested with GBA gene sequencing to confirm the diagnosis. The results of the sequencing revealed 5 carriers and 1 GD patient. Genetic counseling for GD on a personalized level is novel in the region, which all our patients received and responded positively to. In conclusion this process eases the diagnosis and reduces the overall burden of GD while keeping genetic counseling for the patients, which provides better care and opens up the possibilities of a registry system for GD patients and susceptible individuals in low-income countries.

Wnt/β-catenin signaling is a pathway involved in epigenetics and cancer. It regulates cell processes and malignancy in prostate cancer cells. Wnt/β-catenin signaling is also influenced by epigenetic mechanisms, such as DNA methylation, histone modifications, and non-coding RNAs. Therefore, targeting Wnt/β-catenin signaling and epigenetics may be a promising strategy for prostate cancer therapy. Blepharis persica (B. persica) is a plant with phenolic and flavonoid compounds that has anti-cancer properties. However, its mechanisms of action are unclear.We studied the effects of B. persica extract on Wnt/β-catenin signaling in prostate cancer cells (PC-3). We used MTT assay, GC-MS, RT-qPCR, and molecular docking to evaluate the cytotoxicity, composition, gene expression, and protein-ligand interactions of B. persica extract on PC-3 cells. We found that B. persica extract reduced PC-3 cell viability, down-regulated Wnt target genes (CTNNB1 and SNAIL), and up-regulated Wnt antagonists (APC and AXIN). Moreover, molecular docking analysis suggested that four compounds from B. persica extract, namely blepharone A, blepharone B, blepharone C, and blepharone D, had favorable binding energies and interactions with FZD7 protein. These results suggest that these compounds may act as potential inhibitors or modulators of FZD7 protein and thus affect the epigenetic regulation of Wnt signaling in PC-3 cells. These findings provide new insights into the molecular mechanism of B. persica extract on prostate cancer cells and suggest its potential as a natural modulator of Wnt signaling and epigenetics in prostate cancer therapy. epigenetics in PC-3 cells and may have therapeutic potential.

Congenital hypothyroidism is one of the most common endocrine diseases that occur as a result of the inactivity of the thyroid gland and, can lead to impaired mental and physical development. The thyroid hormone is essential for the normal development of the nervous system. The aim of this study was to investigate the relationship between FOXE1 and PDE8B polymorphism in patients with congenital hypothyroidism. FOXE1 and PDE8B polymorphism were analyzed in 100 blood samples as control and case groups via polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and AS-PCR. Blood samples were taken from healthy people and patients, which included 50 patients and 50 control samples. The results of genotype comparison in this study showed no statistical difference between case and control samples. The following studies confirm that according to calculation of OR (OR >1) and CI (the least CI 95% was less than one), there was no significant correlation between the two groups of healthy subjects and patients for rs4704397 polymorphism in PDE8B and rs1867277 polymorphism in FOXE1 with the incidence of congenital hypothyroidism in the population. This study shows that rs1867277 polymorphism of FOXE1 and rs4704397 of PDE8B were not associated with congenital hypothyroidism and are not endorsed as a risk factor for the disease.

Many complex systems such as the Internet, the World Wide Web, the brain, and the causes of diseases can be described by networks with nodes representing agents and links representing relationships or interactions between nodes. Despite these systems seeming utterly different at first glance, they are all made up of interacting parts. Individual objects in this type of system are not isolated but connected through links or relationships. Long non-coding RNAs (LncRNAs), one of the factors related to many diseases, are specific genes in the human genome that control many different biological processes. lncRNAs have been shown to regulate cancer development and occurrence. We used link prediction bioinformatics tools to identify lncRNAs affecting various types of cancers. To achieve this goal, two-part networks were used using CN (Common Neighbors), AA (Adamic/Adar), PA (Preferential Attachment), and JC (Jaccard's Coefficient) algorithms. The results indicated that all the obtained lncRNAs with a high score had been reviewed in other research articles, which was a sign of the correctness of our algorithms. 4.5% of the obtained results lacked scientific and research studies, all with a high score for future studies and included lncRNA H19 and SPRY4-IT1. In addition, in one case with a high score and first position in the Excel file obtained using the Jaccard coefficient algorithm, lncRNA with the symbol AC09510.3 was associated with adenocarcinoma. Still, this possible link has not been investigated in any article yet. Conclusion The current study may identify novel lncRNAs implicated in Adenocarcinoma, vulva squamous cell carcinoma, basal cell carcinoma, gestational choriocarcinoma, chromophobe renal cell carcinoma, brain cancer, pancreatic cancer, hepatocellular carcinoma, prostate cancer, embryonal cancer, germ cell cancer, and choriocarcinoma; however, further research is required to determine the potential functions of this lncRNAs in cancers mentioned above.