Journal of Epigenetics
Volume:5 Issue: 1, Winter 2024

Charcot Marie Tooth disease type 2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Charcot Marie Tooth disease type 2k onset is in early childhood (younger than 3 years). This phenotype is characterized by foot deformities, kyphoscoliosis, distal limb muscle weakness and atrophy, areflexia, and diminished sensation in the lower limbs. Weakness in the upper limbs is observed in the first decade, with clawing of the fingers. Inheritance can be autosomal dominant or recessive.

we sequenced the entire coding region and exon-intron boundaries of the GDAP1 gene in one individual using whole-exome sequencing (WES). Co-segregation analysis was also performed in the proband and mother using Sanger sequencing (the mother has incomplete penetrance). In addition, bioinformatics analyzes were performed to predict the probability and pathogenicity of the mutation.

In exon 6 of the GDAP1 gene, a novel deleterious heterozygous mutation c.830A > G; p. E277G was identified.

We surveyed the clinical and genetic features of this patient and recognized a novel pathogenic variant c.830A > G; p. E277G in the GDAP1 gene. according to the patient's symptoms, we identified a new type of pathogen. This is a missense mutation and its inheritance is autosomal dominant.

Rheumatoid arthritis (RA) is a chronic autoimmune disorder primarily affecting the joints. Interleukin-10 (IL-10) is an important immunoregulatory cytokine involved in regulating the immune response and inflammation. Polymorphism in the promoter region of the IL-10 can affect the expression of the gene. This study aims to investigate the association of human IL-10 rs1800896 (-1082 A/G), rs1800871 (-824 C/T), and rs1800872 (-597 C/A) promoter single nucleotide polymorphisms (SNPs) with susceptibility to RA in the Iraqi women population.

Here, 280 RA female patients who referred to the AL-Hussein Teaching Hospital in Karbala, Iraq between November 2022 to April 2023, and 120 healthy age-matched subjects were examined. The two groups were genotyped for rs1800896, rs1800871, and rs1800872 by tetra-primer ARMS–PCR. Statistical analyses were performed using IBM SPSS windows version 25

All the genotypes did not deviate from Hardy-Weinberg Equilibrium (HWE) expectations in both groups. No positive association was found between allele and genotype frequencies of three SNPs and the incidence of rheumatoid arthritis (all p>0.05). Only the ACC haplotype showed an association with disease susceptibility (p-value=0.0004).

Based on the results, promoter SNPs of the IL-10 gene cannot be used as a suitable marker to determine the susceptibility to rheumatoid arthritis in the Iraqi women population and to prevent its progression.

Entrocin p has been characterized in class IIa bacteriocins and showed a broad spectrum of antimicrobial activity. In this study, the nucleotide sequence of enterocin P transformed and expressed in Pichia pastoris genomically, and antimicrobial activity of the extracted protein was evaluated on pathogenic bacteria. The synthetic sequence of entrocin p was ligated into pPICZαA, an integrated vector, in EcoRI - XbaI site. The recombinant plasmid was amplified in Escherichia coli strain DH5α and proved for ligation and probably mutation by sequencing. The linearized plasmid was electroporated into Pichia pastoris. The presence of recombinant protein in yeast cell extraction was verified by SDS-PAGE and antimicrobial activity of the purified protein. Recombinant entrocin p tested for the inhibition of 8 avian pathogen bacteria via MIC test. Electrophoresis of purified protein and cell culture supernatant showed a protein band about 5.4 kDa. The mass spectrometry of the sample exhibit an Amino acid sequence corresponds to enterocin P in Enterococcus faecium with an accession number of OTN91526.1. Recombinant bacteriocin MIC test shows the most inhibition on Salmonella typhimurium and E. coli O157. Recombinant Pichia pastoris exhibited a potential for producing enterocin P in high concentrations; therefore, this antimicrobial peptide can be studied for pharmacological use or industrial applications.

Colorectal cancer (CRC) is a significant public health burden, accounting for approximately 10% of all new cancer cases worldwide, making it the world’s third most deadly cancer. The causes of CRC are complex and environmental factors play a stronger role than genetic factors. The gut microbiome has been linked to several bowel cancers, such as CRC. The present study aimed to estimate differential abundance analysis of CRC versus HC groups of the colorectal microbiome. Biopsy samples were taken from the normal mucosa of 13 healthy controls (HC) and the tumor of 17 patients with CRC during colonoscopy. The microbiome of tumor tissue and normal mucosa was evaluated by 16S rRNA gene amplicon sequencing. Differential abundance analysis of CRC versus HC groups showed that Enterobacteriaceae, Bacteroides fragilis, Prevotella, Fusobacterium, Leptotrichia, Akkermansia muciniphila, Streptococcus, and Parabacteroides have drastic fold changes (P ≤ 0.05). A heat map and dendrogram of the 20 ascending operational taxonomic units (OTUs) based on the FDR (False Discovery Rate) p-value were constructed to visualize the similarity between CRC and HC samples. The significant difference in the differential abundance of bacteria taxa in CRC versus HC groups indicates that these bacteria can be important pathogens in the development and progression of CRC.

Hypothalamus integrates environmental and peripheral signals to coordinate and manage growth, reproduction, feeding, sleeping and behavior functions. And its transcriptomic profile changes are based on body physiological status. A good way for bird requirement calculation is associating those transcription alterations in hypothalamus for transition from laying to incubating state and vice versa in poultry. Accordingly RNA-Seq data of hypothalamus gene expression were downloaded from NCBI (http://www.ncbi.nlm.- nih.gov/sra/DRA008396). The quality control of sequencing reads was carried out by FastQC software. Filtered reads were evaluated with FastQC. The transcriptional profiling of 4 hypothalamus Sampels including 2 samples from broodiness and 2 samples from non-broodiness was assessed using DEseq2 Package .Gene ontology and pathway analysis were performed using bioinformatics tools. String database was used for the retrieval of interacting genes and Cytoscape software was used to visualize the network. In hypothalamus of laying hens comparing to incubating hens 17 genes showed significant expression change. Eight down-regualtion was related to serotonin receptor 4 (HTR4), prolactin receptor (PRLR), prolactin (PRL), Aguti-related protein (AGRP), Ghrelin (GHRL), neuro-peptide receptor 1 and 2 (NPY1R and NPY2R), vaso-active intestinal peptide (VIP) and nine up-regulation was related to gene expression of melatonin receptor 1 (MTNR1), Arginine vasotocin (AVP), Prolactin Releasing Hormone (PRLH), growth hormone releasing hormone (GHRH), Thyroid releasing hormone (TRH), orexin (HCRT), Pro-Melanin Concentrating Hormone (PMCH), tryptophan hydroxylase 1 and 2 gene expression (TPH1 and TPH2). In conclusion, although pro-lactogenic pathway declined significantly but serotonergic and melatonergic pathways related genes proliferated in hypothalamus of laying hen. AGRP gene and specially ghrelinergic pathway, VIP gene decreased. Accordingly it might to be told more supplementation of tryptophan amino acid and its melatonergic metabolites during laying period is necessary.

Despite significant advances in cancer diagnosis and treatment, cancer is still a fatal disease due to lack of prevention, early detection and effective drugs. Therefore, there is a need to discover anticancer treatments that are specific to cancer cells and are affordable, safe and tolerable for patients. Vitamin E is a potential candidate because of its safety. A growing body of evidence on the anticancer power of vitamin E has shifted the focus away from chemical drugs and antioxidants. The purpose of this study is to investigate the effect of vitamin E on the survival of colorectal cancer cell lines and the effect of this vitamin on two important genes involved in apoptosis. MTT test was performed on this cell line treated with different concentrations of vitamin E (500 to 33350 μg/ml). After determining the IC50 of this vitamin, RNA was extracted from cells treated with vitamin E and untreated cells and then cDNA synthesis was performed. Using the specific primers of BAX and BCL2 genes and considering the GAPDH gene as the reference gene, Real time PCR was performed and the results were analyzed. MTT test showed that vitamin E in low concentrations strengthens and increases the survival of HT29 cell line, but at a concentration of 10000 μg/ml, it decreases the survival percentage of this cancer cell line. Analysis of gene expression also showed that vitamin E leads to increased transcription of both BAX and BCL2 genes. But the increase in BCL2 transcription is several times higher than that of BAX. In general, the cytotoxicity and lethality of vitamin E on colorectal cancer cell line was proved and it was found that this toxicity is not through Bax and Bcl-2 genes and probably the apoptotic effect of this vitamin is through other ways such as reducing survivin expression.