SEPT7 (septin 7)

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

Rs6454674, Rs806368 and Rs1049353 CNR1 Gene Polymorphisms in Turkish Bipolar Disorder Patients: A Preliminary Study

Bipolar disorder (BD) is one of the most prevalent psychiatric disorders in clinical practice. The etiology of the BD is not thoroughly understood. Endocannabinoid system, which is involved in regulation of emotion, stress, memory, and cognition, may have an important role in the pathophysiology of BD. Mutations on the cannabinoid-1 receptor (CNR1) gene are associated with several psychiatric disorders. The main cannabinoid (CB) receptor is CB1 and its activation inhibits neuronal depolarization. One previous study showed rs1049353 polymorphism of CNR1 gene is associated with major depression but not with BD. In this study, we aimed to investigate the rs6454674, rs806368 and rs1049353 CNR1 gene polymorphisms in Turkish BD patients. A total of 96 patients and 58 healthy controls were included in the current case-control study. Blood samples of study participants were collected into sterile tubes and processed to obtain genomic DNA. Restriction Fragment Length Polymorphism analysis were done by digesting the PCR products with HpyCH4III and BseGI enzymes for the rs6454674 and rs806368 restriction sites, respectively. Single-Strand Conformation Polymorphism (SSCP) analysis was also performed. Among three polymorphisms investigated in this study, only rs6454674 polymorphism was significantly different between BD patients and controls (rs6454674 T/G; p=0.042, rs806368 T/C; p>0.05, rs1049353 A/G; p>0.05). Furthermore, we found that the mean of the yearly manic attacks was statistically higher in patients who have heterozygote (0.91+/-0.67) rs6454674 T/G polymorphisms compared to those with homozygote (p=0.043) polymorphism. The post-hoc analysis showed that the main differences were between the heterozygotes genotype and non-mutant (GG) homozygotes (0.42+/-0.31; p=0.037) but not in homozygote mutant genotype (0.74+/-0.74; p=0.149). When patients were compared with the other clinical parameters, and mutated alleles and genotypes for each polymorphism, we did not find any significant difference. These results suggest that a heterozygote advantage exists for the CNR1 gene rs6454674 polymorphism in manic episode frequency in Turkish BD patients. The results of our study should be confirmed in future studies with larger sample size. [Dis Mol Med 2014; 2(2.000): 28-31

Association between TNF-α, TGF-β1, IL-10, IL-6 and IFN-γ gene polymorphisms and generalized aggressive periodontitis

Objective: The aim of this study was to investigate links among cytokine genetic variants and generalized aggressive periodontitis (GAgP). Methods: Thirty-five patients with generalized aggressive periodontitis and 85 healthy controls without periodontitis were included in the study. Probing depth (PD), clinical attachment loss (CAL), plaque index (PI), and gingival index (GI) were recorded as clinical parameters. Polymorphisms of IL-6, IL-10, IFN-γ, TGF-ß1 and TNF-α gene were analysed using the polymerase chain reaction sequence-specific primer method (PCR-SSP). Results: No significant differences were observed for IL-6, IL-10, IFN-γ, and TGF-ß1 cytokine polymorphisms, from the genotype distribution and allele frequency, between GAgP and healthy control groups. In contrast, significant differences were observed in the TNF-α gene polymorphism between GAgP and healthy control groups (P = 0.002). Conclusion: Our data suggest that TNF-α (-308) may be associated with the development of generalized aggressive periodontitis. These results should be replicated in a larger and more diverse population of patients diagnosed with generalized aggressive periodontitis to determine of these findings are generalizable

Genetic analysis of intraoral KIT-positive gastrointestinal stromal tumor (GIST)

Gastrointestinal stromal tumors (GISTs), mesenchymal neoplasms originating from the cells of Cajal, usually appear in the gastrointestinal tract and abdomen. They often mimic other lesions, including smooth muscle cell tumors and neurogenic tumors. This study presents a case in which a GIST appeared over a 2-month period and was treated by excision and curettage, with no sign of recurrence during the next 42 months. The study also aims to characterize the GIST. Histopathologic analysis and KIT gene amplification and sequencing were performed. On mutation analysis of the GIST material, the novel 69338Tdel mutation was found in exon 11, and the diagnosis of intraoral stromal tumor was made. GISTs in the intraoral region display pathologic properties similar to others developed throughout the gastrointestinal system. Diagnosis is the first step of treatment for a patient. The discovery of oncogenic KIT mutations in GISTs has led to the development of targeted molecular therapy using tyrosine kinase inhibitors. This study investigates the histopathologic and molecular diagnostics of GISTs, and, to the authors' knowledge, it represents the first genetic study of a GIST developing in the intraoral region. (Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2010;110:498-503