Personalized Medicine Journal
Volume:5 Issue: 17, Spring 2020

Lung cancer is the leading cause of cancer deaths worldwide. Approximately 25% of nonsmall-cell lung cancers have mutations in the EGFR gene, most of which occur in hotspot regions in exons 18, 19, 20, and 21. In-frame deletions in exon 19 (~50%) and the L858R point mutation in exon 21 (~40%) are associated with a favorable response to EGFR tyrosine kinase inhibitors. In this study, mutations of two exons of 19 and 21 in 50 lung cancer tumor samples were investigated by the sequence method. From 50 lung cancer patients, 8 (16%) patients had an L858R (c.2573T>G) mutation, 6 (12%) patients had deletion type 1a mutation, and one patient had deletion type 1b mutation. Examining the sequence of candidate genes associated with lung cancer can be very important in choosing the right treatment approach.

The most common human archival specimens are formalin-fixed and paraffin-embedded tissues. PCR-based techniques have been coupled with new developments in the extraction of DNA from FFPE. Herein, we report the results of a comparison of different methods of DNA extraction from FFPE specimens, including phenol-chloroform, salting-out, and silica-based commercial kits. Results showed no significant differences between the amounts of DNA obtained from each of the extraction methods studied; however, the salting-out DNA extraction method described is much easier and less toxic than the phenol–chloroform method.

Although several techniques have been developed for the detection of JAK2 V617F mutation, these techniques have their disadvantages. High-resolution melting (HRM) analysis is a new, post-PCR analysis. Simple and fast, this method is based on PCR melting curve techniques. This study examined the JAK2 V617F mutation by the high-resolution melting method in 20 patients with erythrocytosis, and the results were compared with those obtained from the direct sequencing method. The results showed 100% sensitivity and 100% positive predictive value for this methodology in the patient sample set tested.

The majority of ncRNAs are known as long non-coding RNAs (lncRNAs) whose length exceeds 200 nucleotides. H19, a lncRNA, is the transcription product of the H19 gene, an oncogene in breast cancer, and is highly expressed in cancer tissues compared with normal tissues. The expression level of H19 is associated with the oncogenesis, proliferation, invasion, metastasis, and drug resistance of breast cancer. H19 expression levels were detected in breast cancer plasma using qRT-Real-Time PCR assay in 50 breast cancer samples and 50 healthy control samples. The results showed that the expression of this gene in both the tissue and the plasma of patients increased compared to that of healthy individuals.

Currently, little is known about the mechanism(s) of AgNP-induced toxicity. Many previous studies, however, have provided strong evidence for a link between the AgNP-mediated production of ROS and the subsequent generation of oxidative stress. In the current study, the effects of Ag nanoparticles on the MCF-7 breast cell line were examined, and the biomarkers related to stress oxidative including GSH, superoxide dismutase, catalase, and ROS generation were evaluated. The results showed that Ag nanoparticles induced intracellular ROS generation in a dose- and time-dependent manner. Therefore, various studies should be performed to investigate the toxic effects of this substance on different cells.

PAI-1 has become recognized as a central molecule linking pathogenesis and progression of thrombotic vascular events, including stroke. Clinical and experimental studies show that PAI-1 deficiencies cause accelerated fibrinolysis and bleeding, whereas elevated PAI-1 plasma levels are associated with vascular thrombosis. Raised PAI1 plasma levels are related to a 1-bp guanine deletion/insertion (4G/5G) polymorphism in the promoter of the PAI1 gene. The 4G allele is associated with higher plasma PAI1 transcription and activity. In the current study, the association of higher PAI-1 plasma levels and the prevalence of the 4G/5G polymorphism in the PAI-1 gene promoter region in young patients with stroke were explored. Significantly, higher PAI-1 levels were observed in patients when compared to controls (p=002). The 4G/5G polymorphisms were significantly associated with increased PAI-1 levels, with the variant homozygous 4G/4G corresponding to mean values in patients versus controls.

Type 2 diabetes (T2D), formerly known as adult-onset diabetes, is characterized by high blood sugar, insulin resistance, and relative lack of insulin.Diabetic retinopathy, a secondary microvascular complication of diabetes mellitus, is the leading cause of blindness. There is extensive evidence that the pathologic ocular angiogenesis in diabetic retinopathy is regulated by the vascular endothelial growth factor-A (VEGF-A).The single nucleotide polymorphism (SNP) C936T (rs3025039) of the VEGF gene has been investigated in relation to cancer, endometriosis, and age-related macular degeneration. The relationship between the rs3025039 VEGF gene polymorphism and the risk of type 2 diabetic retinopathy in 80 DT2 patients was examined. No significant association was found between polymorphism C936T and type 2 diabetes. It is recommended that this study be repeated on a larger population.