Immunology and Genetics Journal

DNA Methylation and Its Application in IBD

Arezou Rezaei — 2024-09-29

The Article Abstract is not available.

Long Non-Coding RNAs (lncRNA) Are Key Factors in the Complex Puzzle of Breast Cancer Immunopathogenesis: A Review Study

Mohammad Lotfi — 2024-09-29

Long non-coding RNAs (LnC RNAs) exert a substantial influence on breast cancer by exerting both positive and negative control over signaling pathways. LncRNAs are transcribed similarly to mRNA, however they do not undergo the process of translation to become proteins. Initially, these RNAs were classified as "Junk RNAs" since they were thought to lack any practical use. Comprehensive research has demonstrated that they play a vital role in the progression of various diseases, including malignancies, allergies, autoimmune and autoinflammatory disorders, infectious diseases, cardiovascular disease, and atherosclerosis. Despite multiple efforts, breast cancer continues to be a substantial concern and is one of the most prevalent forms of malignancy, especially among women. Recently, researchers have been dedicated to acquiring a deeper understanding of how complex signaling pathways are controlled by Lnc-RNAs in breast cancer. In the setting of breast cancer, Lnc-RNAs have a contradictory effect. The objective of this study is to Review and categorize previous studies An investigation was conducted to examine the impact of long non-coding RNAs on breast cancer. This will improve the capacity to identify topics of research that require further investigation in future studies.

Evaluation of Effects of the COVID-19 Crisis on Disease Management in Children with Type 1 Diabete

Ehsan Khosh Nezhad Afkham — 2024-09-29

Background: With the spread of the coronavirus disease 2019 (COVID-19), strict laws such as quarantine were implemented in many countries, including Iran. The spread of this disease and the general quarantine overshadowed the treatment and management of some chronic diseases, including type 1 diabetes, and many families faced a serious challenge in providing medicines and periodic tests for their children. This study was conducted with the aim of investigating the effects of the COVID-19 crisis on disease management in children with type 1 diabetes.

Method: Based on a researcher-made questionnaire, this cross-sectional study was conducted on 85 children with type 1 diabetes between the ages of 2 and 18 years in 6 months at the Children's Medical Center Hospital. This questionnaire is either collected from the parents during the face-to-face visit of the child with type 1 diabetes, or the virtual visit (telemedicine), and they were asked to complete the relevant questionnaire. This questionnaire included demographic information, laboratory tests, and the challenges of patients' families during the pandemic. In order to properly understand the management of this disease, parents were asked to enter the results of tests related to fasting blood sugar and HbA1c 3 times at the beginning of the pandemic, during quarantine, and during the implementation of the study.

Results: Based on the results, the level of HbA1c, the problem of insurance coverage, the problem of attendance, ketoacidosis, and infection before the pandemic, during the pandemic, and at the time of the study among children with type 1 diabetes were unchanged (P>0.05). There was a significant difference between fasting blood sugar levels, insulin levels, blood sugar control levels, and hospitalizations in type 1 diabetes patients before the pandemic, during the pandemic, and the study period (P<0.05).

Conclusion: Increasing the use of continuous glucose monitors and the widespread use of telemedicine visits may improve the impact of the pandemic on disease management. It is suggested that more multicenter studies with a higher sample size should be conducted in order to investigate the impact of the COVID-19 crisis on children with diabetes.

Abnormal Promoter Methylation of Nucleotide-Binding Oligomerization Domain Containing 2 (NOD2) Gene in the Pathogenesis of Crohn’s Disease

Golshid Sanati — 2024-09-29

Background: Changes in the expression of nucleotide-binding oligomerization domain containing 2 (NOD2) play an important role in the pathogenesis of a variety of autoimmune diseases including inflammatory bowel diseases (IBDs). Epigenetic modifications, including DNA methylation, are considered an important mechanism in the suppression of gene activity. In this study, we investigated the relationship between DNA methylation patterns of the promoter region of the NOD2 gene and the pathogenesis of Crohn’s disease (CD).

Methods: Colonic mucosa samples were obtained from 15 Iranian patients with IBD and 15 age- and sexmatched healthy controls with no history of autoimmune disease. After the bisulfite conversion of genomic DNA, the DNA methylation status of three CpG sites in the promoter region of the NOD2 gene was determined by the real-time quantitative multiplex methylation-specific PCR (QM-MSP) assay.

Results: Using this approach, we identified that IBD patients showed a decreased level of methylation of the NOD2 promoter in the colonic mucosa than did the healthy controls. (Unmethylated DNA in Crohn's disease vs. healthy controls; 0.128±0.093 vs. 0.025±0.016, P<0.000).

Conclusion: According to our findings, promoter hypomethylation of the NOD2 gene in the colonic mucosa might contribute to the development and severity of CD. Furthermore, aberrant DNA methylation levels are expected to serve as a clinically useful risk marker.

Clinical Manifestations of Wiskott-Aldrich Syndrome in an Iranian Patient

Mahsa Yousefpourmarzbali — 2024-09-29

Wiskott-Aldrich Syndrome (WAS) is an immunodeficiency disorder resulting from genetic mutations in the WAS protein (WASP) gene in the X chromosome, characterized by thrombocytopenia, eczema, and infections. This case report focused on a 12-year-old Iranian male with WAS with a history of Crohn’s disease, meningitis, and bilateral hernia. His WAS was diagnosed at age six with a hemizygous c.777+1 G>A mutation in the WASP gene. The patient was referred to our clinic with symptoms including fever, abdominal pain, thrombocytopenia, and elevated ESR. Clinical Imaging revealed a significant lung nodule align bronchiectasis, mild ascites, bilateral epididymitis, and lymphadenopathy. Nephrotic syndrome with proteinuria and low levels of albumin have been observed. After six months of receiving intravenous immunoglobulin (IVIG) therapy in addition to antibiotics and antivirals, the patient suffered from arthritis, edema, and fever. Our WAS patient presented the late comorbidity of renal involvement, which highlights the monitoring of this patient, such as those involved in chronic infections. Therefore, a precise treatment approach is needed to manage either the primary immunodeficiency or the late-discovered diseases.