سال:1398 | دوره: | شماره: |تعداد مقالات:8

Endometriosis is a debilitating disorder, defined as the presence of endometrial gland and stroma outside of the uterus. It may affect angiogenesis and vascular endothelial growth factor (VEGF) is one of the angiogenic factors that plays an important role in both physiological and pathological angiogenesis. The present study aimed to evaluate the association of VEGF-2549 insertion/deletion (I/D) polymorphism with endometriosis. This casecontrol study enrolled 244 (100 cases and 144 controls) women who were admitted for laparoscopy or laparotomy for gynecological procedures. Genomic DNA was separated from peripheral blood leukocytes and polymerase chain reaction (PCR) amplification was performed for genotyping of the VEGF gene Insertion/Deletion (I/D) polymorphism. The frequency of the II, ID, and DD genotype was 14%, 52% and 34% in patients versus 18. 8%, 47. 8% and 34% in controls. The results did not provide any evidence supporting the endometriosis risk related to the VEGF polymorphism in a group of Iranian women population.

it is now 52 years since Marshall Nirenberg Nobel prize winner of "breaking the genetic code” mentioned to the reality of “ genetic surgery” in science in 1967 (1). . . .

Non-communicable diseases (NCDs) are the leading cause of death and disease burden globally, cardiovascular diseases (CVDs) account for the major part of death related to NCDs followed by different types of cancer, chronic obstructive pulmonary disease (COPD), and diabetes. As the World Health Organization (WHO) and the United Nations have announced a 25% reduction in mortality of NCDs by 2025, different communities need to adopt preventive strategies for achieving this goal. Personalized medicine approach as a predictive and preventive strategy aims for a better therapeutic goal to the patients to maximize benefits and reduce harms. The clinical benefits of this approach are already realized in cancer targeted therapy, and its impact on other conditions needs more studies in different societies. In this review, we essentially describe the concept of personalized (or precision) medicine in association with NCDs and the future of precision medicine in prediction, prevention, and personalized treatment.

In the blood of cancer patients, some nucleic acid fragments and tumor cells can be found that make it possible to trace tumor changes through a simple blood test called “ liquid biopsy” . The main components of liquid biopsy are fragments of DNA and RNA shed by tumors into the bloodstream and circulate freely (ctDNAs and ctRNAs). Tumor cells which are shed into the blood (circulating tumor cells or CTCs), and exosomes that have been investigated for non-invasive detection and monitoring several tumors including thyroid cancer. Genetic and epigenetic alterations of a thyroid tumor can be a driver for tumor genesis or essential for tumor progression and invasion. Liquid biopsy can be real-time representative of such genetic and epigenetic alterations to trace tumors. In thyroid tumors, the circulating BRAF mutation is now taken into account for both thyroid cancer diagnosis and determination of the most effective treatment strategy. Several recent studies have indicated the ctDNA methylation pattern of some iodine transporters and DNA methyltransferase as a diagnostic and prognostic biomarker in thyroid cancer as well. There has been a big hope that the recent advances of genome sequencing together with liquid biopsy can be a game changer in oncology.

Various mesenchymal stem cells as easily accessible and multipotent cells can share different essential signaling pathways related to their stemness ability. Understanding the mechanism of stemness ability can be useful for controlling the stem cells for regenerative medicine targets. In this context, OMICs studies can analyze the mechanism of different stem cell properties or stemness ability via a broad range of current high-throughput techniques. This field is fundamentally directed toward the analysis of whole genome (genomics), mRNAs (transcriptomics), proteins (proteomics) and metabolites (metabolomics) in biological samples. According to several studies, metabolomics is more effective than other OMICs for various system biology concerns. Metabolomics can elucidate the biological mechanisms of various mesenchymal stem cell function by measuring their metabolites such as their secretome components. Analyzing the metabolic alteration of mesenchymal stem cells can be useful to promote their regenerative medicine application.

Diabetes with a broad spectrum of complications has become a global epidemic metabolic disorder. Till now, several pharmaceutical and non-pharmaceutical therapeutic approaches were applied for its treatment. Cell-based therapies have become promising methods for diabetes treatment. Better understanding of diabetes pathogenesis and identification of its specific biomarkers along with evaluation of different treatments efficacy, can be possible by clarification of specific metabolic modifications during the diabetes progression. Subsequently, metabolomics technology can support this goal as an effective tool. The present review tried to show how metabolomics quantifications can be useful for diabetic monitoring before and after cell therapy. Cell therapy is an alternative approach to achieve diabetes treatments goals including insulin resistance amelioration, insulin independence reparation, and control of glycemia. OMICs approaches provide a comprehensive insight into the molecular mechanisms of cells features and functional mechanism of their genomics, transcriptomics, proteomics, and metabolomics profile which can be useful for their therapeutic application. As a modern technology for the detection and analysis of metabolites in biological samples, metabolomica can identify many of the metabolic and molecular pathways associated with diabetes and its following complications.

Nephropathy is a common diabetes complication. ERRFI1 gene which participates in various cellular pathways has been proposed as a candidate gene in diabetic nephropathy. This study aimed to investigate the role of +808T/G polymorphism (rs377349) in ERRFI1 gene in diabetic nephropathy. In this case-control study, patients including diabetes with nephropathy (DN=104), type 2 diabetes without nephropathy (DM=100), and healthy controls (HC=106) were included. DNA was extracted from blood, and genotyping of the +808T/G polymorphism was carried out using PCR-RFLP technique. The differences for genotype and allele frequencies for +808T/G polymorphism in ERRFI1 gene between DN vs. HC and DN+DM vs. HC were significant (P<0. 05) while no significant difference between DN and DM was observed. The allele frequencies were significantly different in DN vs. HC and DN+DM vs. HC in males but not in females. G allele of +808T/G polymorphism in ERRFI1 gene has no significant role in development and progression of diabetic nephropathy in diabetes patients while it is a risk allele for developing diabetes in Iranian population.

Type 2 diabetes mellitus (T2DM) is a complex disease that involves a wide range of genetic and environmental factors. The hepatocyte nuclear factor (HNF4A) carries out hepatic gluconeogenesis regulation and insulin secretion crucially, and the corresponding gene was shown to be linked to T2DM in several studies. The aim of the present study was to evaluate the association between HNF4A genetic variants (rs1884613 and rs1884614) and T2DM risk in a group of Iranian patients. This case-control study included 100 patients with T2DM and 100 control subjects. Genotyping of two single nucleotide polymorphisms (SNPs) (rs1884613 and rs1884614) of HNF4A was performed using the sequencing method. There was no statistically significant difference for allele and genotype distribution of the HNF4A common variants (rs1884613 and rs1884614) between subjects with and without T2DM (P=0. 9 and P=0. 9, respectively). Regarding diabetic complications, although the presence of mentioned polymorphisms increased the odds of developing ophthalmic complications and reduction of the odds of renal complications among diabetic patients, the mentioned risk was non-significant and cannot be generalized to the whole population. It seems that rs1884613 and rs1884614 polymorphisms are not associated with T2DM or its renal and ophthalmic complications. To investigate the precise influence of these polymorphisms, prospective cohorts with larger sample sizes are required.