Evaluation of promoter hypermethylation of tumor suppressor gene BRCA1 in epithelial ovarian cancer.

Context: Epithelial ovarian cancer (EOC) is a serious gynecological issue worldwide and its late detection is the major encumbrance in treatment procedures. Hypermethylation-mediated BRCA1 gene silencing results in failure of the repair system of damaged DNA playing an important role in ovarian carcinogenesis. BRCA1 gene hypermethylation can serve as a safe and highly specific clinical marker for EOC. Aims: The present study was conducted to evaluate the promoter hypermethylation of BRCA1 gene in EOC patients. Settings and Design: This hospital-based case-control study carried out in the tertiary care hospital in New Delhi. Subjects and Methods: Promoter hypermethylation of BRCA1 gene was examined in 30 EOC diagnosed untreated cases confirmed by histopathological examinations and compared with 30 normal healthy controls matched for age using methylation specific-polymerase chain reaction. Results: We found significantly higher BRCA1 promoter hypermethylation in the serum of EOC cases as compared to controls with P < 0.0001. BRCA1 gene methylation was found to have 70% sensitivity for the diagnosis of EOC with 100% specificity. A significant difference was observed in the range of CA125 levels, B12 and Folate levels between EOC cases and controls. Conclusions: We conclude that BRCA1 gene is significantly hypermethylated in EOC patients and thus can prove to be a noninvasive diagnostic tool. Our results provide prefatory evidence that epithelial ovarian epigenome can be influenced by dietary nutrients.

Molecular Detection of Streptococcus mutans and Streptococcus sobrinus in Dental Plaque Samples in Children Aged Six to Nine Years.

Context Dental caries is a widespread threat, usually in children, although it has been observed at other stages of life. Various pieces of literature have confirmed the prevalence of S treptococcus mutans and S treptococcus sobrinus in the progression of the disease. However, establishing procedures to detect these species remains a challenge, posing a barrier to treatment plans. Aim The aim of this study is to detect the species in dental plaque samples from children aged six to nine years by polymerase chain reaction (PCR) and correlate their prevalence in various dentitions. Material and Methods This is an observational analytical cross-sectional study conducted in a tertiary care dental hospital. After sample isolation, microbiological processing was performed, genomic DNA was isolated, and PCR run was performed using specific primers to detect the species. SPSS for Windows Version 17 (IBM Corp., Armonk, NY) and Microsoft Excel (Microsoft Corporation, Redmond, WA, USA) were used to perform statistical analysis. A p-value of <0.05 was considered statistically significant. Results The technique could identify S. Mutans and S. Sobrinus in a short turnaround time. The frequency of S. mutans and S. sobrinus infections was higher in individuals with dental caries. Conclusions Molecular detection via PCR is a reliable, economical, and less time-consuming method for detecting S. mutans and S. sobrinus in dental plaque samples.

VEGF Promoter Region 18-bp Insertion-Deletion Polymorphism in Sickle Cell Disease Patients with Microalbuminuria: A Pilot Study.

PURPOSE: Vascular endothelial growth factor (VEGF) is a potent inducer of micro vascular permeability thus leading to nephropathy. Insertion/deletion (I/D) polymorphism of 18 bp at - 2549 position in VEGF gene causes increased transcription leading to increased production of VEGF. Thus, we aimed to associate I/D polymorphism of the 18 bp fragment at - 2549 position of the promoter region of VEGF gene with sickle cell nephropathy (SCN). METHODS: This observational analytical case control study included 30 subjects each of SCN, sickle cell disease (SCD) without nephropathy and the control group. The subjects were assessed for various hematological and biochemical parameters. Further, 18 bp I/D polymorphism of VEGF gene in all three study groups was assessed by polymerase chain reaction followed by electrophoresis and compared. RESULT: Though increased frequency of both DD genotype and D allele was found in SCN compared to SCD and control, only frequency of D allele was found to be significantly higher (p = 0.04). D allele posed marginal risk of microalbuminuria in SCD subjects compared to controls (OR = 2.11) as well as to SCD without MA subjects (OR = 1.84). CONCLUSION: D allele in I/D polymorphism in the promoter region of VEGF gene may be associated with marginal increase in risk of susceptibility to sickle cell nephropathy.