SEPT7 (septin 7)

Review on SEPT7, with data on DNA/RNA, on the protein encoded and where the gene is implicated

Endothelial nitric oxide synthase gene polymorphisms associated with periodontal diseases in Turkish adults

Endothelial nitric oxide synthase (NOS3) is involved in key steps of immune response. Genetic factors predispose individuals to periodontal disease. This study's aim was to explore the association between NOS3 gene polymorphisms and clinical parameters in patients with periodontal disease. Genomic DNA was obtained from the peripheral blood of 23 subjects with aggressive periodontitis (AgP), 26 with chronic periodontitis (CP), 31 with gingivitis (G) and 50 healthy controls. Probing depth (PD), clinical attachment loss (CAL), plaque index (PI) and gingival index (GI) were recorded as clinical parameters. We genotyped NOS3 polymorphisms using the PCR and/or PCR-RFLP method. Genotype frequencies differed significantly among periodontal diseases and controls for these polymorphisms. A significant association was detected between NOS3 +894 polymorphism and PD and CAL in the CP and AgP patient groups; whereas NOS VNTR analysis detected no associations with clinical parameters in theCP and AgP groups. However, a significant association was detected between the AA genotype and both PI and GI in patients with gingivitis; and a significant association was shown between the BB genotype and PI. The present study shows that two common polymorphisms of the NOS3 gene cluster are significantly associated with the occurrence of periodontal diseases

Reduced gene expression of bikunin as a prognostic marker for renal cell carcinoma

Aim: Experimental and clinical studies showed that bikunin, a Kunitz-type protease inhibitor, found in urine and amniotic fluid has a role in spread of tumor cells by providing a significant reduction in the levels of urokinase-type plasminogen activator (uPA) and its specific receptor urokinase-type plasminogen activator receptor (uPAR). The aim of this study was to investigate expression of bikunin at the mRNA level and screen for mutations in exon sequence in renal cell carcinoma (RCC) tissues. Materials and Methods: Total RNA and DNA were extracted from paired normal and tumor tissues of total 50 RCC (11 papillary, 8 chromophobe, 26 clear cell, and 5 other types) patients (23 females, mean age: 53.55 ± 14.17; 27 males mean age: 62.1 ± 7.92). Bikunin mRNA levels were detected using semi-quantitative reverse transcription-polymerase chain reaction (RT-PCR). Mutational screening was performed by using single strand conformation polymorphism (SSCP) method and nucleotide sequence analysis. Results: There was a statistically significant decrease in the 25 (50%) of tumor tissues comparing to normal tissues in terms of mRNA levels of bikunin (Wilcoxon signed rank test, p = 0.0337). According to the classification based on subtypes of RCC; clear cell RCC samples displayed a reduced gene expression (p = 0.0148). Additionally, the patients with the age above 50 had low bikunin expression. The SNP rs80057939 spanning 4th exon of bikunin was detected in 13 tumor tissues. However, it was not statistically significant (p > 0.05). Conclusion: Decreased bikunin mRNA level in renal cells might be associated with poor prognosis of renal carcinoma. Therefore, gene constructs or exogenous administration of bikunin might be a potential adjuvant therapy for RCC treatment. Key Words: Bikunin, nucleotide sequence analysis, prognostic marker, renal cell carcinoma, semi-quantitative RT-PCR

ATP2B4 (ATPase, Ca++ transporting, plasma membrane 4)

Review on ATP2B4, with data on DNA/RNA, on the protein encoded and where the gene is implicated

MCM3 (minichromosome maintenance complex component 3)

Review on MCM3, with data on DNA/RNA, on the protein encoded and where the gene is implicated

ATP5B (ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide)

Review on ATP5B, with data on DNA/RNA, on the protein encoded and where the gene is implicated

Expression profiling of SCN8A and NDUFC2 genes in colorectal carcinoma

The expression differences of SCN8A (which encodes type VIII alpha subunit of voltage gated sodium channel) and NDUFC2 (which encodes C2 subunit of Complex I enzyme in oxidative phosphorylation) genes were evaluated in paired colorectal cancer (CRC) tissues which was relied on our partial transcriptome analysis data in cancer cell lines. Materials and Methods: A total of 62 paired tissues of CRC patients (34 male, 28 female) were included in the study. The mRNA levels of SCN8A and NDUFC2 genes were determined by using real-time PCR (qRT-PCR and semiquantitative PCR). Results: SCN8A gene expression level was significantly lower in tumor tissues (p = 0.0128) and in the patients with the age below 45 years (p = 0.0049). There were also meaningful relationships between the gender, grade of CRC, tumor location, histopathological classification, and SCN8A expression. There was no NDUFC2 differential expression. However, the tumors taken from right colon had significantly lower NDUFC2 expression. Conclusion: Although the voltage gated sodium channels (VGSCs) and Complex I (CI) were associated to a number of diseases including different types of cancers, the different subunits of CI and individual members of VGSCs seem to be cancer type-specific in varying proportions. Key Words: colorectal carcinoma, SCN8A, NDUFC2, Complex I, voltage gated sodium channels, gene expression

Factors Predicting Microinvasion in Ductal Carcinoma in situ

Background: Whether sentinel lymph node biopsy (SLNB) should be performed in patients with pure ductal carcinoma in situ (DCIS) of the breast has been a question of debate over the last decade. The aim of this study was to identify factors associated with microinvasive disease and determine the criteria for performing SLNB in patients with DCIS. Materials and Methods: 125 patients with DCIS who underwent surgery between January 2000 and December 2008 were reviewed to identify factors associated with DCIS and DCIS with microinvasion (DCISM). Results: 88 patients (70.4%) had pure DCIS and 37 (29.6%) had DCISM. Among 33 DCIS patients who underwent SLNB, one patient (3.3%) was found to have isolated tumor cells in her biopsy, whereas 1 of 14 (37.8%) patients with DCISM had micrometastasis (7.1%). Similarly, of 16 patients (18.2%) with pure DCIS and axillary lymph node dissection (ALND) without SLNB, none had lymph node metastasis. Furthermore, of 20 patients with DCISM and ALND, only one (5%) had metastasis. In multivariate analysis, the presence of comedo necrosis [relative risk (RR)=4.1, 95% confidence interval (CI)=1.6-10.6, P=0.004], and hormone receptor (ER or PR) negativity (RR=4.0, 95% CI=1.5-11, P=0.007), were found to be significantly associated with microinvasion. Conclusions: Our findings suggest patients presenting with a preoperative diagnosis of DCIS associated with comedo necrosis or hormone receptor negativity are more likely to have a microinvasive component in definitive pathology following surgery, and should be considered for SLNB procedure along with patients who will undergo mastectomy due to DCIS

UTS2 (urotensin 2)

Review on UTS2, with data on DNA/RNA, on the protein encoded and where the gene is implicated